What is Head Conditions?

What is Head Conditions?

Any condition affecting the head. Some head conditions can be serious such as cancers and skull ...more »

• Head Conditions: Conditions that affect the head.

Head Conditions: Introduction

Types of Head Conditions:

Types of Head Conditions:

• Head conditions by anatomical region:
  • Facial conditions
  • Mouth conditions
  • Nose conditions
  • Cheek conditions
  • Ear conditions
  • Hair conditions
  • Scalp conditions
  • Jaw conditions
  • Brain conditions
  • Dental conditions
• Acoustic Neurinoma
• Basilar artery migraine
• Cephalic tetanus
• Classic migraine
• Cluster headache
• Common Headache
• Common migraine
• Chronic headache
• Cranial neuralgia
• Craniosynostosis
• Exertional headaches
• Head Cancer
• Head injury
• Head lice
• Headache
• Microcephaly
• Migraine
• Muscle contraction headache
• Neurofibromatosis-2
• Occipital Neuralgia
• Sexual headache
• Skull fracture
• Temporal arteritis
• Tension headache
• Trigeminal neuralgia
• Acoustic neuroma
• Cone-Rod Dystrophy, X-linked, 1
• Cone-Rod Dystrophy, X-linked, 3
• Cone-Rod Dystrophy, X-linked, 2
• Retinal cone dystrophy 1
• Retinal cone dystrophy 4
• Retinal cone dystrophy 3A
• Retinal cone dystrophy 3B
• Retinal cone dystrophy 2
• Cone-Rod Dystrophy 2
• Cone-Rod Dystrophy 3
• Cone-Rod Dystrophy 5
• Cone-Rod Dystrophy 6
• Cone-Rod Dystrophy 7
• Syphilis -- Teratogenic Agent
• Vision to Temperature Synesthesia
• Vision to Touch Synesthesia
• Vision to Taste Synesthesia
• Vision to Sound Synesthesia
• Vision to Smell Synesthesia
• Touch to Sound Synesthesia
• Temperature to Sound Synesthesia
• Taste to Sound Synesthesia
• Sound to Touch Synesthesia
• Sound to Temperature Synesthesia
• Sound to Smell Synesthesia
• Kinetics to Sound Synesthesia
• Music to Color Synesthesia
• Colored Hearing
• Eye melanoma
• Aneurysm, intracranial berry, 10
• Aneurysm, intracranial berry, 9
• Aneurysmal subarachnoid haemorrhage
• Aneurysm, intracranial berry
• Aneurysm, intracranial berry, 1
• Aneurysm, intracranial berry, 2
• Aneurysm, intracranial berry, 3
• Aneurysm, intracranial berry, 4
• Aneurysm, intracranial berry, 5
• Aneurysm, intracranial berry, 6
• Microphthalmia, syndromic 7
• Eye cancer
• Ocular melanoma
• Brain Stem Glioma
• Medulloblastoma
• Oligodendroglioma
• Lip and oral cavity cancer
• Salivary gland cancer, adult
• Brain cancer
• Oral cancer
• Oropharyngeal cancer, adult
• Cerebrovascular Conditions
• Cerebrovascular accident
• Subconjunctival hemorrhage
• Extradural hematoma
• Broken jaw
• Broken nose
• Dental caries
• Gum disease
• Tooth abscess
• Dry socket
• Edentulism
• Gingivitis
• Impacted tooth
• Vincent's disease
• Tooth loss
• Dry mouth
• Dental abscess
• Canker sores
• Periodontitis
• Gum disorders
• Gingivostomatitis
• Dislocated jaw
• Entropion
• Myopia 16
• Myopia 15
• Myopia 14
• Myopia 13
• Myopia 12
• Myopia 11
• Myopia 10
• Myopia 9
• Myopia 8
• Myopia 7
• Myopia 5
• Orbital lymphoma
• Myopia 4
• Myopia 3
• Myopia 2
• Myopia 1
• Cornea Plana 1
• Cornea Plana 2
• Cornea plana, congenital
• Vision Impairment
• Refractive Eye Disorders
• Myopia
• Hyperopia
• Astigmatism
• Blindness
• Night blindness
• Presbyopia
• Anisometropia
• Color blindness
• Open-angle glaucoma
• Closed-angle glaucoma
• Congenital glaucoma
• Secondary glaucoma
• Neovascular glaucoma
• Age-related macular degeneration
• Myopia, severe
• Night blindness, congenital stationary, type 2A
• Night blindness, congenital stationary, type 1B
• Myopia 6
• Myopia, infantile severe
• Acute headache
• Psychogenic headache
• Complicated migraine
• Retinal migraine
• Migrainous stupor migraine
• Chronic paroxysmal hemicrania
• Lower half headache
• Benign exertional-sex headache
• Exertional headache
• Cervicogenic headache
• Drug rebound headache
• Gravitational headache
• Icepick headache
• Hypertension headache
• Cough headache
• Ice-cream headache
• Facioplegic migraine
• Vascular headaches
• Post-traumatic headache
• Chronic tension headache
• Retinitis Pigmentosa 48
• Retinitis Pigmentosa 49
• Retinitis Pigmentosa 47
• Retinitis Pigmentosa 46
• Retinitis Pigmentosa 45
• Retinitis Pigmentosa 44
• Retinitis Pigmentosa 43
• Retinitis Pigmentosa 40
• Retinitis Pigmentosa 39
• Retinitis Pigmentosa 38
• Retinitis Pigmentosa 20
• Retinitis Pigmentosa 4
• Retinitis Pigmentosa 35
• Retinitis Pigmentosa 36
• Retinitis Pigmentosa 26
• Retinitis Pigmentosa 30
• Retinitis Pigmentosa 42
• Retinitis Pigmentosa 19
• Retinitis Pigmentosa 28
• Retinitis Pigmentosa 31
• Retinitis Pigmentosa 41
• Retinitis Pigmentosa 23
• Retinitis Pigmentosa 22
• Retinitis Pigmentosa 32
• Retinitis Pigmentosa 37
• Retinitis Pigmentosa 34
• Retinitis Pigmentosa 33
• Retinitis Pigmentosa 18
• Retinitis Pigmentosa 25
• Retinitis Pigmentosa 10
• Retinitis Pigmentosa 24
• Retinitis Pigmentosa 13
• Retinitis Pigmentosa 17
• Retinitis Pigmentosa 14
• Retinitis Pigmentosa 11
• Retinitis Pigmentosa 9
• Retinitis Pigmentosa 12
• Retinitis Pigmentosa 7
• Retinitis Pigmentosa 6
• Retinitis Pigmentosa 2
• Retinitis pigmentosa 27
• Retinitis pigmentosa 29
• Lens disorders
• Cornea disorders
• Retina Conditions
• Retinitis Pigmentosa
• Glioma Susceptibility 8
• Glioma Susceptibility 7
• Glioma Susceptibility 6
• Glioma Susceptibility 5
• Glioma Susceptibility 4
• Glioma Susceptibility 3
• Glioma Susceptibility 2
• Glioma Susceptibility 1
• Glioma Susceptibility
• Lissencephaly 3
• Spinocerebellar ataxia, autosomal recessive 6
• Spinocerebellar ataxia 18
• Spinocerebellar ataxia 27
• Spinocerebellar ataxia 19
• Spinocerebellar ataxia 28
• Spinocerebellar ataxia 29
• Spinocerebellar ataxia, autosomal dominant
• Dry Eye
• Corneal ulcer
• Corneal flash burns
• Corneal abrasion
• Corneal Dystrophies
• Fuchs' Dystrophy
• Keratoconus
• Lattice dystrophy
• Map-dot-fingerprint dystrophy.
• Iridocorneal Endothelial Syndrome
• Corneal dystrophy, Fuchs' endothelial, 1
• Coloboma of eye lens
• Corneal dystrophy, Fuchs' endothelial, 2
• Melanoma of the iris
• Cardiomyopathy diabetes deafness
• Glaucoma 1, open angle, B
• Deafness, autosomal dominant nonsyndromic sensorineural 21
• Deafness, autosomal dominant nonsyndromic sensorineural 30
• Deafness, autosomal dominant nonsyndromic sensorineural 12
• Deafness, autosomal dominant nonsyndromic sensorineural 31
• Deafness, autosomal dominant nonsyndromic sensorineural 13
• Deafness, autosomal dominant nonsyndromic sensorineural 22
• Deafness, autosomal dominant nonsyndromic sensorineural 15
• Deafness, autosomal dominant nonsyndromic sensorineural 24
• Deafness, autosomal dominant nonsyndromic sensorineural 41
• Deafness, autosomal dominant nonsyndromic sensorineural 23
• Deafness -- cataracts -- skeletal anomalies
• Deafness, genetic, nonsyndromic
• Deafness -- lymphoedema -- leukemia
• Perforated eardrum
• Noise-Induced Hearing Loss
• Tinnitus
• Hearing Impairment
• Deafness
• Congenital deafness
• Conductive deafness
• Sensorineural deafness
• Nerve deafness
• Spinocerebellar ataxia, autosomal recessive 4
• Spinocerebellar ataxia 16
• Spinocerebellar ataxia 25
• Amaurosis congenita of Leber, type 9
• Intracranial germ cell tumour
• Migraine with or without aura, susceptibility to, 10
• Migraine with or without aura, susceptibility to, 11
• Deafness, autosomal recessive 63
• Deafness, autosomal recessive 72
• Migraine with aura, susceptibility to, 9
• Deafness, autosomal recessive 29
• Congenital alopecia X-linked
• Amaurosis congenita of Leber, type 2
• Spinocerebellar ataxia 11
• Spinocerebellar ataxia 20
• Amaurosis congenita of Leber, type 4
• Microphthalmia -- cataract
• Spinocerebellar ataxia 12
• Spinocerebellar ataxia 21
• Spinocerebellar ataxia, autosomal recessive 1
• Spinocerebellar ataxia 13
• Spinocerebellar ataxia 22
• Amaurosis congenita of Leber, type 6
• Spinocerebellar ataxia 14
• Spinocerebellar ataxia 23
• Amaurosis congenita of Leber, type 7
• Spinocerebellar ataxia, autosomal recessive 3
• Spinocerebellar ataxia 15
• Amaurosis congenita of Leber, type 8
• Spinocerebellar ataxia, autosomal recessive 5
• Spinocerebellar ataxia 17
• Spinocerebellar ataxia 26
• Deafness, Autosomal Recessive 1B
• Deafness, Autosomal Dominant 2B
• Deafness, Autosomal Dominant 59
• Absolute Glaucoma
• Infantile Glaucoma
• Juvenile Glaucoma
• Psuedoexfoliative Glaucoma
• Steroid induced glaucoma.
• Uveitic Glaucoma
• Phacomorphic Glaucoma
• Phacolytic Glaucoma
• Inflammatory Glaucoma
• Traumatic Glaucoma
• Glaucoma in phacomatoses
• Iridocorneal dysgenesis
• Ghost cell glaucoma
• Glaucoma in Intra ocular tumours
• Glaucoma in ciliochorodial detachment
• Glaucoma in epithelial ingrowth
• Glaucoma in iridoschisis.
• Malignant glaucoma
• Acute Angle Closure Glaucoma
• Chronic angle closure glaucoma
• Sub acute angle closure Glaucoma
• Eye allergy
• Primary open angle glaucoma
• Primary angle closure glaucoma
• Mixed or Combined mechanism Glaucoma
• Ocular Hypertension
• Diabetic Eye Disease
• Diabetic Retinopathy
• Cataracts
• Glaucoma
• Retinopathy
• Diabetic Lens Osmosis
• Eye conditions
• Tongue Cancer
• Mouth cancer
• Lip cancer
• Gum cancer
• Palate cancer
• Salivary gland cancer
• Parotid gland cancer
• Tonsil cancer
• Nasopharynx cancer
• Sinus cancer
• Deafness, autosomal dominant 3B
• Deafness, autosomal dominant 3A
• Polymicrogyria, Bilateral Parasagittal Parieto-Occipital
• Polymicrogyria, Bilateral Generalized
• Polymicrogyria, Bilateral Frontal
• Polymicrogyria, Asymmetric
• Polymicrogyria, Bilateral Frontoparietal
• Polymicrogyria
• Bilateral Occipital Polymicrogyria
• Schizencephaly
• Lissencephaly
• Agyria
• Macrogyria
• Pachygyria
• Mouth psoriasis
• Ear Psoriasis
• Facial Psoriasis
• Tongue Conditions
• Spinocerebellar ataxia 2
• Spinocerebellar ataxia 4
• Spinocerebellar ataxia 5
• Syphilitic aseptic meningitis
• Spinocerebellar ataxia, Machado-Joseph type I
• Deafness, autosomal dominant nonsyndromic sensorineural 4
• Nonsyndromic hereditary hearing impairment
• Nystagmus, hereditary vertical
• Deafness, autosomal dominant nonsyndromic sensorineural 5
• Parkinson's disease dementia, familial
• Primary Parkinsonism
• Genetic Parkinson disease
• Parkinson disease, genetic types
• Parkinson disease 4, autosomal dominant, Lewy body
• Optic nerve hypoplasia, familial bilateral
• Deafness, autosomal recessive 20
• Deafness, autosomal recessive 21
• Deafness, autosomal recessive 30
• Deafness, autosomal recessive 12
• Deafness, autosomal recessive 22
• Deafness, autosomal recessive 31
• Deafness, autosomal recessive 13
• Deafness, autosomal recessive 40
• Deafness, autosomal recessive 32
• Deafness, autosomal recessive 14
• Deafness, autosomal recessive 23
• Parkinson disease 7, autosomal recessive, early-onset
• Spinocerebellar ataxia, X-linked, 2
• Spinocerebellar ataxia, X-linked, 3
• Alzheimer's Disease
• Age-Related Hearing Impairment
• Age-Related Hearing Impairment 1
• Age-Related Hearing Impairment 2
• Optic Atrophy 4
• Optic Atrophy 3, Autosomal Dominant
• Optic Atrophy 7
• Optic atrophy 1
• Optic atrophy, idiopathic, autosomal recessive
• Optic atrophy 2
• Microphthalmia and mental deficiency
• Optic atrophy 5
• Lymphedema, microcephaly and chorioretinopathy syndrome
• Optic atrophy 6
• Cleft palate -- short stature -- vertebral anomalies
• Optic atrophy 1 and deafness
• Optic atrophy, autosomal dominant
• Proximal tubulopathy -- diabetes mellitus -- cerebellar ataxia
• Optic atrophy and cataract, autosomal dominant
• Onychodystrophy -- deafness
• Deafness, X-linked 5
• Deafness, X-linked 6, progressive
• Deafness, X-Linked 4
• Deafness, X-Linked 3
• Deafness, X-Linked 4, Sensorineural Congenital
• Deafness, X-Linked 1
• Deafness, X-Linked 2, Sensorineural Congenital
• Deafness, Conductive with Stapes Fixation
• Deafness, X-Linked 2
• Parkinson disease 7, autosomal recessive early-onset (PARK7)
• Parkinson disease 4, autosomal dominant Lewy body (PARK4)
• Parkinson disease 11 (PARK11)
• Parkinson disease 13 (PARK13)
• Parkinson disease 5 (PARK5)
• Parkinson disease 9 (PARK9)
• Familial Forms of Alzheimer's Disease
• Alzheimer disease, familial, 4
• Alzheimer disease, familial, 11
• Alzheimer disease 3, (early-onset Alzheimer disease)
• Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
• Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
• Alzheimer disease, early-onset, with cerebral amyloid angiopathy
• Alzheimer disease 16
• Right parietal lobe syndrome related Alzheimer's disease
• Alzheimer disease 2, late-onset
• Late-onset Alzheimer's
• Early-onset Alzheimer's
• Idiopathic Parkinson's disease
• Parkinson disease, familial, type 1 (PARK1)
• Parkinson disease 6, autosomal recessive early-onset (PARK6)
• Parkinson disease 2, autosomal recessive juvenile (PARK2)
• Parkinson disease 10 (PARK10)
• Parkinson disease 12 (PARK12)
• Parkinson disease 8 (PARK8)
• Parkinson disease 3, autosomal dominant Lewy body (PARK3)
• Mitochondrial Parkinson's disease
• Glossopharyngeal neuralgia
• Dandruff
• Baldness
• Trichotillomania
• Dichromasy
• Red-green color blindness
• Deuteranopia
• Protanopia
• Tritanopia
• Blepharitis
• Stye
• Ocular histoplasmosis syndrome
• Conjunctival disorders
• Neonatal Conjunctivitis
• Bacterial conjunctivitis
• Allergic conjunctivitis
• Black eye
• Nose foreign body
• Ear foreign body
• Eye foreign body
• Ocular Herpes
• Pterygium
• Halitosis
• Belching
• Burping
• Parkinson's Disease
• Meningitis
• Bacterial meningitis
• Pneumococcal meningitis
• Fungal meningitis
• Leptomeningitis
• Encephalitis
• Japanese encephalitis
• Murray Valley encephalitis
• Macular hole
• Retinal tear
• Retinal detachment
• Vitreous detachment
• Posterior vitreous detachment
• Sinusitis
• Acute Sinusitis
• Chronic Sinusitis
• Allergic rhinitis
• Hay fever
• Deviated Septum
• Tonsil disorders
• Tonsilitis
• Chronic tonsilitis
• Adenoiditis
• Adenoid disorders
• Encephalitis, California serogroup viral
• Eastern equine encephalitis
• St. Louis encephalitis
• Western equine encephalitis
• Eyebrow conditions
• Neonatal ophthalmitis
• Ophthalmitis
• Opththalmoplegia
• Optic neuritis
• Rhinitis
• Retinoblastoma
• Vision Disorders
• Aphakia
• Tooth Abrasion
• Toothache
• Tooth Attrition
• Hypomyelination, Global Cerebral
• Orofacial Cleft 12
• Orofacial Cleft 11
• Orofacial Cleft 10
• Orofacial Cleft 9
• Orofacial Cleft 8
• Orofacial Cleft 7
• Orofacial Cleft 6, Suseptibility to,
• Orofacial Cleft 5
• Orofacial Cleft 4
• Orofacial Cleft 3
• Orofacial Cleft 2
• Orofacial Cleft 1
• Orofacial Cleft
• Amyotrophic lateral sclerosis, 11
• Leber congenital amaurosis, type 12
• Amaurosis Congenita of Leber, type 12
• Leber congenital amaurosis, type 11
• Leber congenital amaurosis, type 10
• Leber Congenital Amaurosis, type 13
• Amaurosis Congenita of Leber, type 13
• Nephritis, Familial, without Deafness or Ocular Defect
• Deafness, autosomal recessive 77
• Deafness, autosomal recessive 71
• Deafness, autosomal recessive 45
• Hypersalivation in children
• Decreased salivary function
• Decreased salivation
• Acquired Tritanopia
• Subacute sclerosing leukoencephalitis
• Senile Retinoschisis
• Retinoschisis, X-linked
• Colourblindness, tritan
• Corneal Transplant Rejection
• Retinoschisis, juvenile
• Corneal Graft Rejection
• Colorblindness, tritanopic
• Congenital tritanopia
• Juvenile Retinoschisis
• Blue colourblindness
• Ocular Myasthenia Gravis
• Pontocerebellar Hypoplasia Type 2C
• Pontocerebellar Hypoplasia Type 2B
• Pontocerebellar Hypoplasia Type 6
• Fetal-onset olivopontocerebellar hypoplasia
• Pontocerebellar hypoplasia type V
• Scalp psoriasis
• Eyelid eczema
• Tempormandibular joint pain
• Thyroid eye disease
• Cloudy cornea as seen in corneal ulcer
• Tooth abnormalities as seen in diabetes
• Deafness, autosomal dominant nonsyndromic sensorineural 43
• Deafness, autosomal dominant nonsyndromic sensorineural 25
• Deafness, autosomal dominant nonsyndromic sensorineural 44
• Deafness, autosomal dominant nonsyndromic sensorineural 53
• Deafness, autosomal dominant nonsyndromic sensorineural 17
• Deafness, autosomal dominant nonsyndromic sensorineural 36
• Deafness, autosomal dominant nonsyndromic sensorineural 18
• Deafness, autosomal dominant nonsyndromic sensorineural 47
• Deafness, autosomal dominant nonsyndromic sensorineural 28
• Face Boil
• Amyotrophic lateral sclerosis
• Encephaloceles
• Perioral dermatitis
• Tobacco amblyopia
• Optic-spinal form of multiple sclerosis
• Eye muscle strain
• Jaw joint disorders
• Accidental Eye Injury
• Acute meningitis
• Eosinophilic meningitis
• Anthrax meningitis
• Chronic meningitis
• Recurring meningitis
• Chemical meningitis
• Carcinomatous meningitis
• Infectious meningitis
• Autoimmune uveitis
• Uveitis
• Autoimmune eye diseases
• Alopecia
• Alopecia Areata
• Alopecia Totalis
• Normal Pressure Hydrocephalus
• Oculomotor Migraine
• Periorbital Cellulitis
• Basilar Migraine
• Eye Herpes
• Orbit Tumour
• Teething
• Ear infection (infant)
• Sticky eye
• Encephalocele frontal
• Iniencephaly
• Deafness, autosomal recessive 24
• Deafness, autosomal recessive 33
• Deafness, autosomal recessive 42
• Deafness, autosomal recessive 15
• Deafness, autosomal recessive 51
• Eye neuropathy
• Sympathetic ophthalmitis
• Scleritis
• Dementia
• Multi-Infarct Dementia
• Dementia With Lewy Bodies
• Ptosis
• Progressive Multifocal Leukoencephalopathy
• Rasmussen's Encephalitis
• Stained teeth
• Nasopharyngitis
• Smokers Tongue
• Cancer of floor of mouth
• Oropharyngeal cancer
• Hair loss
• Chronic eye diseases
• Headache-free migraine
• Marfan Syndrome type 2
• Deafness, autosomal recessive 35
• Deafness, autosomal recessive 17
• Deafness, autosomal recessive 26
• Deafness, autosomal recessive 62
• Deafness, autosomal recessive 44
• Deafness, autosomal recessive 65
• Deafness, autosomal recessive 47
• Deafness, autosomal recessive 38
• Deafness, autosomal recessive 48
• Deafness, autosomal recessive 66
• Deafness, autosomal recessive 39
• Microphthalmia syndromic, type 9
• Microphthalmia, isolated with coloboma 3
• Microphthalmia, isolated with coloboma 2
• Microphthalmia, isolated with coloboma 1
• Microphthalmia, isolated with coloboma 4
• Microphthalmia, isolated with coloboma 5
• Microphthalmia syndromic, type 4
• Microphthalmia syndromic, type 8
• Microphthalmia syndromic, type 10
• Microphthalmia syndromic, type 5
• Microphthalmia syndromic, type 6
• Microphthalmia isolated 1
• Microphthalmia isolated 2
• Microphthalmia isolated 3
• Microphthalmis, isolated, with cataract 4
• Anophthalmos
• Ehlers-Danlos syndrome with periventricular heterotopia
• Microtia type I
• Microtia type II
• Microtia type III
• Microtia type IV
• Microdontia -- type I microtia -- deafness
• Microlissencephaly
• Microlissencephaly -- micromelia
• Microphthalmia -- ankyloblepharon -- mental retardation
• Microphthalmia -- brain atrophy
• Tooth Demineralization
• Oral Ulcer
• Nasal Obstruction
• Intracranial Hemorrhages
• Intracranial Embolism
• Anosognosia
• Jaw sprain
• Visual seizure
• Jaw Clicking
• Hepatic encephalopathy like coma
• Retinal scarring
• Mask facies as in case of Parkinson's disease
• Secondary causes of glaucoma
• Meningitis-like neck stiffness
• Glaucoma associated with systemic abnormalities
• Ocular displacement
• Conditions with similar presentation as Exudative retinal detachment
• Glaucoma-like clouding of vision
• Basilar artery insufficiency
• Nystagmus, Benign Paroxysmal Positional
• Homonymous hemianopia
• Glaucoma acquired secondary to intraocular neoplasm
• Primary glaucoma associated with ocular abnormalities
• Alcoholic cerebellar degeneration
• Facial paresthesia
• Paracusia
• Diseases related to congenital cataract
• Iridodialysis
• Conditions with similar presentation as Tractional retinal detachment
• Intraocular hemorrhage
• Conditions with similar presentation as Rhegmatogenous retinal detachment
• Rosacea-like facial flush
• Retinal edema
• Diseases associated with senile cataract
• Tonsillitis like bad breath
• Colored haloes similar to that of glaucoma
• Extraocular muscle palsies
• Optic ataxia
• Difficulty seeing at night
• Periodontitis as in case of leukemia
• Periodontitis-like bleeding gums
• Oculomotor palsy
• Diabetes-like retinal edema
• Scarring alopecia
• Eye deviation
• Bilateral temporal hemianopsia
• Gum abnormalities
• Uremic encephalopathy
• Diseases leading to retinal scarring
• Brain stem lesions
• Recurring headache
• Phosgene oxime -- eye exposure
• Pfeiffer Syndrome Type I
• Pfeiffer Syndrome Type II
• Pfeiffer Syndrome Type III
• Acrocephalosyndactyly Syndrome type 5
• Acrocephalosyndactyly type 5 (ACPS 5)
• Pfeiffer syndrome
• Pfeiffer syndrome Type 1
• Pfeiffer syndrome Type 2
• Pfeiffer syndrome Type 3
• Absent abdominal musculature with microphthalmia and joint laxity
• Absence of septum pellucidum
• Aicardi-Goutieres syndrome 1
• Aicardi-Goutieres syndrome 2
• Aicardi-Goutieres syndrome 3
• Aicardi syndrome
• Aicardi-Goutieres syndrome 4
• Pseudo-torch syndrome
• Aicardi-Goutieres syndrome
• Aicardi-Goutieres syndrome 5
• Ehlers-Danlos syndrome, 6B
• Osteogenesis imperfecta, type 1A
• Osteogenesis imperfecta, type 1B
• Ehlers-Danlos syndrome, progeroid form 2
• Ehlers-Danlos syndrome type VIII
• Osteogenesis imperfecta Type I
• Ehlers-Danlos, syndrome, periodontitis type
• Charcot-Marie-Tooth disease -- deafness
• Charcot-Marie-Tooth disease with ptosis and parkinsonism
• Primary open angle glaucoma juvenile onset 1
• Charcot-Marie-Tooth disease deafness recessive type
• Autosomal Dominant Charcot-Marie-Tooth with hearing loss
• Chiari Malformation
• Chiari-1 Malformation
• Arnold-Chiari Malformation (Type 1)
• Arnold-Chiari Syndrome
• Arnold-Chiari malformation type 2
• Arnold-Chiari malformation type 3
• Arnold-Chiari malformation type 4
• Parkinsonism, early onset with mental retardation
• Mental retardation, X-linked, syndromic type 11
• Mental retardation, Buenos Aires type
• Cerebral Atrophy
• Cerebral Palsy
• Mental retardation, Wolff type
• Amyotrophic lateral sclerosis 7
• Amyotrophic lateral sclerosis 8
• Amyotrophic lateral sclerosis, 9
• Amyotrophic lateral sclerosis 2, juvenile
• Amyotrophic lateral sclerosis 4, juvenile
• Amyotrophic lateral sclerosis, type 6
• Amyotrophic lateral sclerosis, familial type 1
• Amyotrophic lateral sclerosis, familial type 2
• Amyotrophic lateral sclerosis, familial type 3
• Amyotrophic lateral sclerosis, familial type 4
• Amyotrophic lateral sclerosis, familial type 5
• Amyotrophic lateral sclerosis, familial type 6
• Amyotrophic lateral sclerosis, familial type 7
• Amyotrophic lateral sclerosis, familial type 8
• Amyotrophic lateral sclerosis, familial
• Amyotrophic lateral sclerosis type 1
• Amyotrophic lateral sclerosis-parkinsonism/dementia complex 2
• Amyotrophic lateral sclerosis-parkinsonism-dementia complex
• Amyotrophic lateral sclerosis 3
• Amyotrophic lateral sclerosis 5
• Amyotrophic lateral sclerosis 6
• Osteogenesis imperfecta, Type VI
• AIDS Dementia Complex
• Osteogenesis imperfecta, type 3
• Osteogenesis imperfecta, type 4
• Osteogenesis imperfecta, type 5
• Osteogenesis imperfecta, type 6
• Neonatal bacterial meningitis
• Osteogenesis imperfecta type IIII
• Osteogenesis imperfecta type IV
• Ear wax
• Glue ear
• Labrynthitis
• Concussion
• Brain abscess
• Brain compression
• Brain damage
• Cephalic disorders
• Cerebral hemorrhage
• Atrophic rhinitis
• Vasomotor rhinitis
• Postnasal drip
• Lymphocytic Choriomeningitis
• Granulomatous amebic encephalitis
• Fluorosis
• Herpes stomatitis
• Hand, Foot, & Mouth Disease
• Fissures
• Subarachnoid haemorrhage
• Exophthalmos
• High altitude cerebral edema
• Herpes zoster oticus
• Ramsay Hunt syndrome Type II
• Barber's rash
• Choroiditis
• Recurrent headache
• Mild headache
• Severe headache
• Tooth Agenesis, Selective, X-Linked, 1
• Tooth Agenesis, Selective, 6
• Tooth Agenesis, Selective, 5
• Tooth Agenesis, Selective, 4
• Tooth Agenesis, Selective, 3
• Tooth Agenesis, Selective, 2
• Tooth Agenesis, Selective, 1
• Tooth Agenesis
• Anodontia
• Ocular vaccinia
• Waxy pallor of the optic disc
• Vaccinia keratitis
• Post-vaccinial encephalitis
• Hairy tongue
• Alzheimer disease type 2
• Alzheimer disease type 1
• Infantile parkinsonism
• Brain tumor, adult
• Spinocerebellar ataxia 3
• 46,XX Gonadal dysgenesis epibulbar dermoid
• Frontonasal dysplasia -- Klippel Feil syndrome
• Klippel Feil deformity conductive deafness absent vagina
• Agenesis of the corpus callosum
• Anencephaly
• Dandy-Walker Syndrome
• Empty Sella Syndrome
• Hydranencephaly
• Mobius syndrome
• Neuronal Migration Disorders
• Holoprosencephaly
• Cleft palate
• Deafness, autosomal dominant nonsyndromic sensorineural 10
• Deafness, autosomal dominant nonsyndromic sensorineural 11
• Deafness, autosomal dominant nonsyndromic sensorineural 48
• Deafness, autosomal dominant nonsyndromic sensorineural 49
• Deafness, autosomal recessive 1
• Deafness, autosomal recessive 2
• Deafness, autosomal recessive 3
• Parkinson disease, juvenile, autosomal recessive
• Deafness, autosomal recessive 5
• Deafness, autosomal recessive 6
• Deafness, autosomal recessive 7
• Deafness, autosomal recessive 8
• Microcephaly -- chorioretinopathy, recessive form
• Deafness, autosomal recessive 9
• Deafness, autosomal recessive 10
• Deafness, autosomal recessive 16
• Retinal dysplasia, X-linked
• Deafness, autosomal recessive 36
• Deafness, autosomal recessive 27
• Deafness, autosomal recessive 18
• Deafness, autosomal recessive 37
• Deafness, autosomal recessive 28
• Deafness, autosomal recessive 46
• Deafness, autosomal recessive 67
• Deafness, autosomal recessive 49
• Deafness progressive cataract autosomal dominant
• Mental retardation, X-linked -- hypotonic face
• Mental retardation, X-linked -- corpus callosum agenesis -- spastic quadriparesis
• Mental retardation, X-linked -- cubitus valgus -- typical face
• Mental retardation, X-linked -- epilepsy -- progressive joint contractures -- typical face
• Mental retardation, X-linked -- macrocephaly -- macro-orchidism
• Mental retardation, X-linked recessive -- macrocephaly -- ciliary dysfunction
• Macular degeneration, age-related, 8
• Mental retardation, X-linked -- craniofacial dysmorphology -- epilepsy -- ophthalmoplegia -- cerebellar atrophy
• Nystagmus, myoclonic
• Parkinson disease, familial, Type 1
• Parkinson disease 12
• Parkinson disease 13
• Nose polyposis, familial
• Deafness, X-linked, DFN
• Ocular Muscular Dystrophy
• Deafness, isolated, due to mitochondrial transmission
• Deafness, neurosensory nonsyndromic recessive, DFN
• Paranasal sinus cancer, adult
• Deafness, autosomal recessive 59
• Deafness, autosomal recessive 68
• Deafness, autosomal dominant nonsyndromic sensorineural 1
• Deafness, autosomal dominant nonsyndromic sensorineural 2
• Deafness, autosomal dominant nonsyndromic sensorineural 3
• Deafness, autosomal dominant nonsyndromic sensorineural 6
• Deafness, autosomal dominant nonsyndromic sensorineural 7
• Deafness, autosomal dominant nonsyndromic sensorineural 8
• Deafness conductive stapedial ear malformation facial palsy
• Aniridia, type 2
• Ichthyosis microphthalmos
• Microphthalmia -- mental deficiency
• Immunosuppressive Measles Encephalitis
• Measles Encephalitis in Children with Immunosuppression
• Chronic Vilyuisk Encephalitis
• Slowly Progressive Viliuisk Encephalitis
• Slowly Progressive Vilyuisk Encephalitis
• Acute Vilyuisk Encephalitis
• Acute VE
• Acute Bokhoror
• Acute Viliuisk Encephalomyelitis
• Acute Viliuisk Encephalitis
• Acute Vilyuisk Encephalomyelitis
• Kinky hair due to secondary causes
• Acquired progressive kinky hair
• Parkinsonism, early-onset -- mental retardation
• Parkinson disease 3
• Parkinson disease 9
• Parkinson disease 8
• Parkinson disease 6, autosomal recessive, recessive early-onset
• Parkinson disease 10
• Parkinson disease 11
• Alzheimer disease, familial, 1
• Alzheimer disease 5
• Alzheimer disease 6
• Alzheimer disease 7
• Alzheimer disease 8
• Alzheimer disease 9
• Alzheimer disease 10
• Alzheimer disease 12
• Ankyloglossia
• Diplopia
• Squint
• Ectropion
• Glossitis
• Hemianopia
• Permanent brain damage
• Mouth ulcers
• Nosebleeds
• Nystagmus
• Teeth grinding
• Acute rhinitis
• Chronic rhinitis
• Brain infection
• Nasal polyp
• Hypertelorism with esophageal abnormality and hypospadias
• Oligodontia and polycystic ovarian syndrome
• Spinocerebellar ataxia, autosomal recessive 2
• Hypertelorism -- esophageal abnormalities -- hypospadias
• Hypospadias -- hypertelorism
• Cataract -- intellectual deficit -- anal atresia -- urinary defects
• Facial clefting corpus callosum agenesis
• Short stature cranial hyperostosis hepatomegaly diabetes
• Craniosynostosis -- brachysyndactyly of hands and absence of toes
• Short stature valvular heart disease characteristic facies
• Megalocornea mental retardation syndrome
• Aniridia cerebellar ataxia mental deficiency
• White matter hypoplasia, corpus callosum agenesia, and mental retardation
• X-linked mental retardation craniofacial abnormal microcepahly club
• Vitiligo mental retardation facial dysmorphism uremia
• Zonular cataract and nystagmus
• Woolly hair, hypotrichosis, everted lower lip and outstanding ears
• Retinopathy pigmentary mental retardation
• Retinitis pigmentosa, deafness, mental retardation, hypogonadism
• Alopecia mental retardation hypogonadism
• Alopecia mental retardation syndrome
• Alopecia-contractures-dwarfism-mental retardation
• Cleft lip -- palate -- mental retardation -- corneal opacity
• Short stature mental retardation eye anomalies
• Retinitis pigmentosa 1
• Extrasystoles -- short stature -- hyperpigmentation -- microcephaly
• Median cleft lip, corpus callosum, lipoma, and skin polyps
• Polydactyly -- myopia syndrome
• Mental retardation sparse hair brachydactyly
• Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
• Mental retardation, Behavior disturbance, Sensorineural hearing loss
• Mental retardation, X-linked with brachydactyly and macroglossia
• Mental mixed retardation -- deafness -- clubbed digits
• Neuropathy motor sensory type 2 deafness mental retardation
• Hypotelorism -- cleft palate -- hypospadias
• Hypoplastic thumbs -- hydranencephaly
• Dentinogenesis imperfecta -- short stature -- hearing loss -- mental retardation
• Pterygia -- mental retardation -- facial dysmorphism
• Deafness -- goiter -- stippled epiphyses
• Dwarfism -- deafness -- retinitis pigmentosa
• Deafness -- enamel hypoplasia -- nail defects
• Intracranial aneurysms -- multiple congenital anomaly
• Deafness -- hypospadias -- metacarpal and metatarsal synostosis
• Delayed speech -- facial asymmetry -- strabismus -- ear lobe creases
• Cleft palate -- stapes fixation -- oligodontia
• Tibial aplasia -- ectrodactyly -- hydrocephalus
• Microcephaly -- cervical spine fusion anomalies
• Deafness -- nephritis -- anorectal malformation
• Deafness neurosensory -- pituitary dwarfism
• Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
• Dandy-Walker malformation postaxial polydactyly
• Angiokeratoma -- mental retardation -- coarse face
• Ophthalmoplegia, progressive external -- scoliosis
• Epiphyseal dysplasia -- hearing loss -- dysmorphism
• Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
• Deafness -- craniofacial syndrome
• Microcephaly -- seizures -- mental retardation -- heart disorders
• Deafness oligodontia syndrome
• Deafness hyperuricemia neurologic ataxia
• Deafness hypogonadism syndrome
• Corneal dystrophy, epithelial basement membrane
• Deafness, congenital onychodystrophy, recessive form
• Deafness-mental retardation, Martin-Probst type
• Intellectual deficit -- short stature -- microcephaly -- eye anomalies
• Syndromic Dystelephalangy
• Deafness symphalangism
• Deafness -- onychodystrophy -- osteodystrophy -- mental retardation
• Facial asymmetry -- temporal seizures
• Split hand split foot nystagmus
• Iris dysplasia hypertelorism deafness
• Opticoacoustic nerve atrophy dementia
• Deafness -- Opticoacoustic nerve atrophy -- dementia
• Hypotrichosis, syndactyly and retinal degeneration
• Deafness, congenital neurosensory, autosomal recessive 10
• Deafness -- epiphyseal dysplasia -- short stature
• Craniosynostosis -- cataract
• Craniosynostosis -- intracranial calcifications
• Craniosynostosis mental retardation clefting syndrome
• Deafness -- pili torti -hypogonadism
• Deafness, autosomal dominant nonsyndromic sensorineural 9
• Short stature -- Robin sequence -- cleft mandible -- hand anomalies -- clubfoot
• Microcephaly -- sparse hair -- mental retardation -- seizures
• Pachygyria -- mental retardation -- seizures
• Deafness, autosomal recessive 53
• Deafness mixed with perilymphatic Gusher, X-linked
• Ataxia-oculomotor apraxia syndrome
• Deafness conductive -- ptosis -- skeletal anomalies
• Oculo tricho anal syndrome
• Deafness peripheral -- neuropathy -- arterial disease
• Anophthalmia -- esophageal atresia -- cryptorchidism
• Aortic arch anomaly with peculiar facies and mental retardation
• Anophthalmos with limb anomalies
• Deafness -- skeletal dysplasia -- lip granuloma
• Polydactyly visceral anomalies cleft lip palate
• Short stature -- craniofacial anomalies -- genital hypoplasia
• Pterygia -- Mental retardation -- Distinctive Craniofacial Features
• Distinctive Craniofacial Features -- Pterygia -- Mental Retardation
• Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance
• Craniosynostosis -- Dandy-Walker -- Hydrocephalus
• Mental retardation athetosis microphthalmia
• Microcephaly with spastic quadriplegia
• Pontoneocerebellar Hypoplasi
• Short stature -- microcephaly -- seizures -- deafness
• Overfolded helix
• Mental retardation -- short stature -- unusual facies
• Mental retardation -- short stature -- deafness -- genital
• Microcephaly -- mesobrachyphalangy -- tracheoesophageal fistula syndrome
• Retinopathy -- aplastic anemia -- neurological abnormalities
• Mental retardation, X-linked, syndromic 11
• Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
• Mental retardation -- hypotonic facies syndrome, X-linked, 1
• Short limbs -- abnormal face -- congenital heart disease
• Ataxia-deafness syndrome
• Ataxia spastic congenital miosis
• Ataxia tapetoretinal degeneration
• Auricular abnormalities -- cleft lip with or without cleft palate -- ocular abnormalities
• Auriculoocular anomalies -- cleft lip
• Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
• Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness
• Macrocephaly -- mental retardation -- facial dysmorphism
• Macrocephaly mesodermal hamartoma spectrum
• Macrostomia -- preauricular tags -- external ophthalmoplegia
• Lymphoedema -- cleft palate
• Hypodontia and Dupuytren contracture
• Macular dystrophy, atypical vitelliform
• Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers
• Spinocerebellar ataxia, autosomal recessive 7
• Spinocerebellar ataxia, autosomal recessive 9
• Chorioretinopathy -- microcephaly, autosomal recessive
• Unusual facies, arachnodactyly, hypogenitalism and failure to thrive
• Unusual facies and autosomal recessive hypohidrotic ectodermal dysplasia
• Lethal arthrogryposis with anterior horn cell disease
• Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis
• Fronto-temporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17)
• Premature chromosome condensation with microcephaly and mental retardation
• Midface hypoplasia, corneal clouding, subvalvular aortic stenosis and mental and somatic retardation
• Unusual facies, short webbed neck, mental retardation, short stature
• Serratia meningitis
• Alzheimer disease 13
• Alzheimer disease 14
• Basal ganglia calcification, idiopathic 1
• Basal ganglia calcification, idiopathic 2
• Corneal dystrophy, gelatinous drop-like
• Corneal dystrophy Avellino type
• Alzheimer's disease without Neurofibrillary tangles
• Alzheimer disease, familial, type 3
• Alzheimer disease type 4
• Alzheimer disease, familial
• Alzheimer disease 15
• Idiopathic facial palsy
• Spinocerebellar ataxia 8
• Spinocerebellar ataxia, X-linked, 5
• Spinocerebellar ataxia -- dysmorphism
• Spinocerebellar ataxia with axonal neuropathy, type 2
• Spinocerebellar ataxia, X-linked, type 4
• Spinocerebellar Ataxia 9
• Spinocerebellar Ataxia
• Progressive external ophthalmoplegia
• Feline spongiform encephalopathy
• Bovine spongiform encephalopathy
• Transmissible mink encephalopathy (TME)
• Cerebral Aneurysm
• Cerebral Arteriosclerosis
• Hemifacial Spasm
• Progressive muscular atrophy
• Opsoclonus Myoclonus
• Otitis
• Ear infection
• Otitis externa
• Barotitis Media
• Eustachian tube disorders
• Earache
• Eyelid disorders
• Eyelid inflammation
• Primary amoebic meningoencephalitis
• Mild Traumatic Brain Injury
• Chronic tonsillitis
• Leukoencephalopathy
• Mouth lesions
• Listeriosis meningoencephalitis
• Rasmussen encephalitis
• Athetoid Cerebral Palsy
• Mixed Cerebral Palsy
• Cerebral Palsy, Ataxic, Autosomal Recessive
• Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
• Cerebral Palsy, Spastic Quadriplegic, 1
• Cerebral Palsy, Spastic Quadriplegic, 2
• Cerebral Palsy, Spastic Quadriplegic, 3
• Glaucoma, normal tension, susceptibility to
• Glaucoma -- iridogoniodysgenesia
• Glaucoma 1, open angle, G
• Glaucoma, hereditary
• Glaucoma, primary open angle
• Glaucoma 1, open angle C
• Glaucoma 1, open angle D
• Glaucoma 1, open angle, E
• Glaucoma 1, open angle F
• Glaucoma 1, open angle, I
• Glaucoma 1, open angle, J
• Glaucoma 1, open angle, K
• Glaucoma 3, primary congenital A
• Glaucoma 3, primary infantile, B
• Glaucoma -- sleep apnea
• Glaucoma, congenital
• Microcephaly -- microphthalmia -- ectrodactyly of lower limbs -- prognathism
• Strabismus-like double vision
• Wilson's disease-like Kayser-fleischer rings
• Microdontia as seen in Down's syndrome
• Diabetes-like blepharitis
• Metabolic encephalopathy
• Non-scarring alopecia
• Blue sclera as seen is osteogenesis imperfecta
• Cerebral contusion
• Vascular retinopathies
• Extraocular motor nerve palsies
• Nasal papillomas
• Otorrhea
• Mydriasis
• Miosis
• Chvostek's sign
• Ocular deviation
• Hemianopsia
• Halo vision
• Battle's sign
• Corneal reflex, absent
• Fontanel bulging
• Scotoma
• Enophthalmos
• Oral thrush
• Cryptococcal Meningitis
• Cold sores
• Stomatitis
• Gum disorder
• Argyria
• Meibomitis
• Pupils, nonreactive
• Visual blurring
• Sternal malformation vascular dysplasia association
• Ectodermal dysplasia, hypohidrotic, autosomal recessive
• Renal-hepatic-pancreatic dysplasia -- Dandy Walker cyst
• Orofaciodigital syndrome, Shashi type
• Orofaciodigital syndrome type1
• Oral facial digital syndrome, type 4
• Orofaciodigital syndrome, type 3
• Sugarman syndrome
• Orofaciodigital syndrome type 10
• Orofaciodigital syndrome type Thurston type
• Orofaciodigital syndrome type I
• OFD syndrome type Figuera
• Oral facial digital syndrome
• Oral facial digital syndrome, type IV
• OFD syndrome type IX
• OFD syndrome type 8
• Edwards Syndrome
• Thurston syndrome
• Orofaciodigital syndrome Thurston type
• Orofaciodigital syndrome, Gabrielli type
• Oculopalatocerebral syndrome
• Otopalatodigital Syndrome Type I and II
• Otopalatodigital Syndrome Type I
• Oto-Palato-Digital Syndrome
• Oto-Palato-digital syndrome type 1
• Oto-palato-digital syndrome, type 2
• Oculopalatoskeletal syndrome
• Leiomyomatosis of esophagus, cataract and hematuria
• Bone dysplasia -- corpus callosum agenesis
• Craniofacial dyssynostosis
• Olivopontocerebellar atrophy -- deafness
• Microencephaly
• Oral leukoplakia
• Triopia
• Hereditary hearing disorder
• Esotropia
• Hyperacusis
• Hereditary hearing loss
• Pili torti
• Red-green color vision defects
• Blue-yellow color vision defects
• Infantile onset spinocerebellar ataxia
• Microcephaly nonsyndromal
• Pigmentary retinopathy
• Blepharoptosis
• Bradyopsia
• Brain Concussion
• Epileptic encephalopathy, early infantile, 4
• Aneurysm, intracranial berry, 7
• Compulsive cheek biting
• Compulsive scalp picking
• Gingival fibrosis
• Primary amebic meningoencephalitis
• Spinocerebellar ataxia, X-linked, 4
• Spinocerebellar ataxia, Machado-Joseph type IV
• Spinocerebellar degenerescence, book type
• Spinocerebellar ataxia, Machado-Joseph type III
• Spinocerebellar ataxia 10
• Spinocerebellar ataxia, Machado-Joseph type II
• Spinocerebellar ataxia, Machado-Joseph type V
• Median nodule of the upper lip
• Spinocerebellar ataxia -- amyotrophy -- deafness
• Spinocerebellar ataxia-dysmorphism syndrome
• Alopecia immunodeficiency
• Cockayne syndrome
• Cockayne syndrome type 1
• Cockayne syndrome type 2
• Cockayne syndrome type 3
• Rothmund-Thomson Syndrome
• Facial ectodermal dysplasia
• Setleis Syndrome
• Focal facial dermal dysplasia, type II
• Sutton Disease
• Sutton disease 2
• Sutton Disease II
• Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation
• WAGR Syndrome
• Aniridia
• Aniridia III
• Aniridia I
• Aniridia II
• Achromatopsia type 2
• Achromatopsia type 3
• Achromatopsia type 4
• Achromatopsia
• Achromatopsia type 1
• Achromatopsia incomplete, X-linked
• Achromatopsia 4
• Achromatopsia 3
• Achromatopsia 2
• Achromatopsia 1
• Rod Monochromacy 2
• Achromatopsia with Myopia
• Iritis
• Episcleritis
• Aniridia -- absent patella
• Aniridia -- mental retardation syndrome
• Aniridia, sporadic
• Retinal Arterial Occlusion
• SUNCT headache
• Hallervorden-Spatz disease
• Hallervorden-Spatz Syndrome
• Porencephaly
• Hydrocephalus
• Myhre Syndrome
• Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss
• Marinesco-Sjogren syndrome
• Marinesco-Sjogren-like syndrome (MSLS)
• Partial agenesis of corpus callosum
• Partial lissencephaly
• Noonan syndrome 3
• Noonan-like/multiple giant cell lesion syndrome
• Noonan-like syndrome
• Neurofibromatosis-Noonan syndrome
• Noonan Syndrome
• Oculoauriculovertebral (OAV) dysplasia
• Goldenhar Syndrome
• Waardenburg syndrome type 2
• Waardenburg syndrome types I
• Waardenburg syndrome, type 4
• Waardenburg syndrome, type 3
• Waardenburg syndrome type 2A
• Waardenburg syndrome type 2B
• Waardenburg type 1
• Waardenburg type pierpont
• Waardenburg syndrome
• Waardenburg syndrome type IIA
• Waardenburg syndrome type IIB
• Waardenburg syndrome type IIC
• Waardenburg syndrome type IID
• Waardenburg syndrome type IIE
• Waardenburg Syndromes
• Jackson-Weiss Syndrome
• Branchio-oto-renal (BOR) syndrome, type 2
• Branchiootic syndrome
• Branchiootic syndrome 1
• Branchiootic syndrome 2
• Branchiootic syndrome 3
• Branchio-Oto-Renal Syndrome
• Branchio-Oculo-Facial Syndrome
• Branchio-otoureteral syndrome
• Branchio oculo facial syndrome Hing type
• Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and
• Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct
• Branchial arch syndrome X-linked
• Migraine with or without aura, susceptibility to, 4
• Dystonia-Parkinsonism, Adult-Onset
• Migraine with or without aura, susceptibility to, 5
• Limbic encephalitis
• Cataract, posterior polar, 5
• Cataract, posterior polar, 4
• Anterior polar cataract 2
• Cataract, posterior polar, 1
• Cataract, posterior polar, 2
• Retinopathic oxygen toxicity
• Cataract, posterior polar, 3
• Cornea guttata with anterior polar cataract
• Cataract, congenital, with microcornea or slight microphthalmia
• Cataract-glaucoma
• Cerulean cataract
• Cataract, congenital nuclear, autosomal recessive 1
• Autosomal recessive nonsyndromic congenital nuclear cataract
• Cataract, congenital nuclear, autosomal recessive 2
• Exudative retinopathy familial, autosomal dominant
• Cataract, crystalline aculeiform or frosted
• Cataract, crystalline coralliform
• Microcornea -- cataract -- coloboma syndrome
• Cataract, juvenile, with microcornea and glucosuria
• Cataract, autosomal recessive congenital 3
• Opitc atrophy and cataract, autosomal dominant
• Cataract, congenital, cerulean, type 1
• Cataract congenital dominant non nuclear
• Cataract, microphthalmia and nystagmus
• Cataract, congenital, Volkmann type
• Cataract, congenital, cerulean, type 2
• Cataract, congenital, cerulean, type 3
• Cataract, autosomal recessive congenital 2
• Microphthalmis, isolated, with cataract 1
• Cataract, total congenital
• Cataract, zonular
• Cataract-microcornea syndrome
• Cataract, congenital, autosomal dominant
• Cataract Hutterite type
• Hemiplegic migraine, familial type 1
• Hemiplegic migraine, familial type 2
• Hemiplegic migraine, familial type 3
• Hemiplegic migraine, familial type 4
• Migraine with or without aura, susceptibility to, 1
• Migraine with or without aura, susceptibility to, 2
• Migraine with or without aura, susceptibility to, 3
• Migraine with or without aura, susceptibility to, 6
• Migraine with or without aura, susceptibility to, 7
• Migraine with or without aura, susceptibility to, 8
• Hemiplegic migraine, familial
• Late onset dominant cone dystrophy
• Late onset dominant cone dystrophy with early blue cone involvement
• Cone dystrophy
• Bifid nose
• Rod Monochromatism 2
• Cone-Rod Dystrophy 10
• Cone-Rod Dystrophy 11
• Cone-Rod Dystrophy 12
• Cone-Rod Dystrophy 13
• Cone-Rod Dystrophy 8
• Cone-Rod Dystrophy 9
• Cone-Rod Dystrophy 1
• Cone rod dystrophy
• Enhanced S-Cone Syndrome
• Blue cone monochromatism
• Ocular Albinism type 1
• Oculocutaneous albinism, minimal pigment type
• Ocular albinism
• Oculocutaneous albinism type 1
• Ocular albinism X-linked, recessive
• Albinism
• Oculocutaneous albinism, type 1A
• Oculocutaneous albinism, type 1B
• Oculocutaneous albinism
• Rufous oculocutaneous albinism
• Oculocutaneous albinism, type 2
• Oculocutaneous albinism, type 3
• Oculocutaneous albinism, type 4
• Albinism, ocular, autosomal recessive
• Albinism ocular late onset sensorineural deafness
• Tietz Albinism-Deafness Syndrome
• Albinism-deafness of Tietz
• Albinism deafness syndrome
• Albinism immunodeficiency
• Microcephaly albinism digital anomalies syndrome
• Birdshot chorioretinopathy
• Chorioretinopathy dominant form -- microcephaly
• Exudative retinopathy, familial
• Exudative retinopathy familial, X-linked, recessive
• Central serous chorioretinopathy
• Exudative retinopathy familial, autosomal recessive
• Acute zonal occult outer retinopathy
• Exudative vitreoretinopathy 3
• Exudative vitreoretinopathy 4
• Retinopathy pigmentary -- intellectual deficit
• Retinopathy, pigmentary and mental retardation
• Hypertrichosis retinopathy dysmorphism
• Retinopathy of prematurity
• Impairment of oral perception
• Pontocerebellar hypoplasia with infantile spinal muscular atrophy
• Spinal muscular atrophy -- Dandy-Walker complex -- cataracts
• Split hand -- split foot -- deafness
• Microcephaly -- lymphoedema -- chorioretinopathy
• Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome
• MLCRD Syndrome
• Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome
• Lymphoedema -- Microcephaly -- chorioretinopathy
• Corneal dystrophy -- perceptive deafness
• Corneal anesthesia deafness mental retardation
• Corneal anesthesia deafness intellectual deficit
• Corneal hypesthesia deafness intellectual deficit
• Corneal Dystrophy, Lisch Epithelial
• Corneal Dystrophy, Endothelial, X-Linked
• Corneal Dystrophy, Subepithelial Mucinous
• Corneal Dystrophy, Posterior Amorphous
• Aglossia
• Hypoglossia
• Hypoglossia -- Hypodactylomelia
• Hypoglossia -- Hypomelia
• Hypoglossia -- Hypodactylia
• Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylomelia
• Glossopalatine Ankylosis -- Hypoglossia -- Hypomelia
• Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylia
• Glossopalatine Ankylosis -- Hypoglossia
• Intraoral Bands -- Hypoglossia -- Hypodactylomelia
• Intraoral Bands -- Hypoglossia -- Hyopmelia
• Intraoral Bands -- Hypoglossia -- Hypodactylia
• Intraoral Bands -- Hypoglossia
• Intraoral Bands and Fusion
• Aglossia-Hypoactylia syndrome
• Micrognathia with Peromelia
• Aglossia-Adactylia syndrome
• Isolated Hypoglossia
• Hypoglossia with Situs Inversus
• Oromandibular and Limb Hypogenesis Syndrome, Type III
• Oromandibular and Limb Hypogenesis Syndrome, Type II
• Oromandibular and Limb Hypogenesis Syndrome, Type I
• Corneal dystrophy crystalline of Schnyder
• Groenouw type I corneal dystrophy
• Corneal dystrophy, juvenile epithelial of Meesmann
• Dermochondrocorneal dystrophy of Francois
• Corneal dystrophy and perceptive deafness
• Corneal endothelial dystrophy type 1
• Corneal endothelial dystrophy type 2
• Macular dystrophy, corneal type 1
• Lattice corneal dystrophy type 1
• Lattice corneal dystrophy type 2
• Lattice corneal dystrophy type 3
• Corneal dystrophy of Bowman layer, type 1
• Corneal dystrophy of Bowman layer, type 2
• Keratosis palmoplantaris -- corneal dystrophy
• Corneal dystrophy -- ichthyosis -- microcephaly -- mental retardation
• Retinoschisis1, X-linked, Juvenile
• Retinoschisis, autosomal dominant
• Retinoschisis, Juvenile, X-Linked
• Congenital X-linked retinoschisis
• Retinoschisis with early hemeralopia
• Retinoschisis of Fovea
• Woolly hair, congenital
• Retinoschisis
• Dysphasic dementia, hereditary
• Microcephaly, primary autosomal recessive, 1
• Rhabdomyosarcoma of the orbit
• Microcephaly, primary autosomal recessive, 2
• Microcephaly, primary autosomal recessive, 4
• Microcephaly, primary autosomal recessive, 5
• Microcephaly, primary autosomal recessive, 6
• Microcephaly with normal intelligence, immunodeficiency
• Ghost Teeth
• Olivopontocerebellar Atrophy, Hereditary
• Olivopontocerebellar Atrophy
• Olivopontocerebellar atrophy type IV
• Olivopontocerebellar atrophy type 3
• Olivopontocerebellar atrophy I
• Olivopontocerebellar atrophy, type V
• Micrencephaly olivopontocerebellar hypoplasia
• Nanophthalmos 1
• Nanophthalmos 2
• Nanophthalmos 3
• Nanophthalmia
• Retinal degeneration -- nanophthalmos -- glaucoma
• Auditory seizure
• Infantile epileptic-dyskinetic encephalopathy
• Epilepsy -- microcephaly -- skeletal dysplasia
• California encephalitis
• Myotonic dystrophy type 3
• Myotonic dystrophy, type 2
• Proximal myotonic dystrophy
• Cerebellar degeneration
• Unusual facies, osteosarcoma and malformation syndrome
• Macular degeneration, age-related, 2
• Cerebral sarcoma
• Uveal melanoma
• Macular degeneration, age-related, 1
• Macular degeneration, age-related, 3
• Macular degeneration, age-related, 4
• Macular degeneration, age-related, 5
• Macular degeneration, age-related, 7
• Macular degeneration, age-related, 6
• Macular degeneration, age-related, 9
• Macular degeneration, age-related, 10
• Macular degeneration, age-related, 11
• Earlobe conditions
• Middle ear infection
• Macular amyloidosis
• Amyloidosis, cerebroarterial, hereditary, Italian type
• Amyloidosis VII
• Amyloidosis, oculoleptomeningeal
• Amyloidosis, cerebroarterial, hereditary, Iowa type
• Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
• Amyloidosis of gingiva and conjunctiva mental retardation
• Brachydactyly -- small stature -- face anomalies
• Split hand split foot mandibular hypoplasia
• Lymphoedema -- atrial septal defects -- facial changes
• Neuropathy -- ataxia -- retinitis pigmentosa
• Peripheral Neuropathy -- Intestinal Pseudo-Obstruction -- Deafness
• Motor and Sensory Neuropathy, Optic Atrophy and Sensorineural Hearing Loss
• Motor and Sensory Neuropathy with Sensorineural Hearing Loss, Bouldin type
• Hereditary Motor and Sensory Neuropathy with Deafness, Mental Retardation and Absence of Large Myelinated Fibers
• Motor and Sensory Neuropathy, Pigmentary Retinopathy and Sensorineural Hearing Loss
• Lissencephaly, type 1, isolated, without known genetic defects
• Neuropathy ataxia and retinis pigmentosa
• Moebius axonal neuropathy -- hypogonadism
• Orbit tumor
• Hair defect photosensitivity mental retardation
• Hair defect with photosensitivity and mental retardation
• Hairy nose tip
• Lissencephaly type III -- metacarpal bone dysplasia
• Saethre-Chotzen Syndrome
• Acrocephalopolydactyly II
• Carpenter syndrome
• Acrocephalosyndactyly II
• Acrocephalosyndactyly
• Acrocephalopolydactyly
• Acrocephalopolysyndactyly type III
• Acrocephalosyndactyly type 3 (ACPS 3)
• Acrocephalopolysyndactyly, type 2 (ACPS 2)
• Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects
• ACPS III
• Trichorhinophalangeal Syndrome Type II
• Trichorhinophalangeal Syndrome Type I
• Trichorhinophalangeal syndrome type 1
• Trichorhinophalangeal syndrome type 3
• Trichorhinophalangeal Syndrome Type III
• Trichorhinophalangeal syndrome type 2
• Marie Unna congenital hypotrichosis
• Marie Unna Hereditary Hypotrichosis 2
• Fibromatosis gingival -- hypertrichosis
• Amaurosis hypertrichosis
• Familial deafness
• Tricho-dento-osseous syndrome type I
• Tricho-dento-osseous syndrome II
• Trichodental syndrome
• Tricho-onychic dysplasia
• Tricho-odonto-onychial dysplasia
• Hypotrichosis -- ichthyosis, congenital
• Ichthyosis with hypotrichosis, autosomal recessive
• Tricho-dento-osseous syndrome
• Tricho-dento-osseous syndrome type
• Juvenile macular degeneration and hypotrichosis
• Oculo tricho dysplasia
• Opthalmoplegia -- mental retardation -- lingua scrotalis
• Tricho-retino-dento-digital syndrome
• Trichomalacia
• Tricho odonto onycho dermal syndrome
• Canine teeth, absence upper permanent
• Pena Shokeir syndrome, type 1
• Pena-Shokeir syndrome Type 2
• COFS syndrome
• Cerebro-Oculo-Facio-Skeletal Syndrome
• Tolosa-Hunt Syndrome
• Beckwith-Wiedemann Syndrome
• Wiedemann-Beckwith syndrome
• Lissencephaly syndrome type 1
• Microcephaly, primary autosomal recessive, 7
• Maternally inherited diabetes and deafness
• Maternally inherited diabetes and deafness with cardiomyopathy
• Diabetes insipidus, diabetes mellitus, optic atrophy
• Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form
• Corpus callosum agenesis double urinary collecting system and trigonocephaly
• Corpus callosum agenesis double urinary collecting
• Deafness mesenteric diverticula of small bowel neuropathy
• Proteus like syndrome mental retardation eye defect
• Short stature, cranial hyperostosis, hepatomegaly and diabetes
• Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus
• Atherosclerosis- deafness -- diabetes -- epilepsy -- nephropathy
• Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease
• Spastic paraplegia nephritis deafness
• Diabetes, neonatal -- congenital hypothyroidism -- congenital glaucoma -- hepatic fibrosis -- polycystic kidneys
• Renal tubulopathy -- diabetes mellitus -- cerebellar ataxia
• Lissencephaly, type 1, X-linked
• Cartilage Hair Hypoplasia
• Cleft lip with or without cleft palate
• Cleft Palate and Cleft Lip
• Cleft palate cardiac defect ectrodactyly
• Cleft palate colobomata radial synostosis deafness
• Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
• Deafness, Y-linked 1
• Dystonia with cerebellar atrophy
• Lissencephaly type III -- familial foetal akinesia sequence
• Lissencephaly, X linked -- agenesis of the corpus callosum -- genital anomalies
• Lissencephaly -- immunodeficiency
• Lissencephaly, isolated
• Lissencephaly with cerebellar hypoplasia
• Lissencephaly, X-linked, 1
• Lissencephaly with cerebellar hypoplasia, recessive
• Lissencephaly type 2
• Lissencephaly, X-linked 2
• Lissencephaly type 1, due to LIS 1 anomalies
• Seckel syndrome 4
• Seckel syndrome 1
• Seckel syndrome 2
• Seckel syndrome 3
• Seckel syndrome
• Seckel-like syndrome, type Buebel
• Seckel-like syndrome, Majoor-Krakauer type
• Pili torti -- onychodysplasia
• Acroosteolysis dominant type
• Hajdu-Cheney Syndrome
• Cerebellar degeneration, subacute
• Gordon Syndrome
• Adams-Oliver Syndrome
• Lenz Microphthalmia Syndrome
• Rubinstein-Taybi Syndrome
• Wyburn-Mason Syndrome
• Wyburn Mason's syndrome
• Arthrogryposis, distal, type 2A
• Freeman-Sheldon Syndrome
• Whistling face syndrome
• Arthrogryposis, distal, type 2B
• Cutis verticis gyrata
• Cutis verticis gyrata mental deficiency
• Cleft palate -- lateral synechia syndrome
• Cutis verticis gyrata -- mental deficit
• Xeroderma talipes enamel defects
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
• Congenital ichthyosis, microcephalus, quadriplegia
• Cataract and congenital ichthyosis
• Ichthyosiform Erythroderma, Corneal Involvement and Deafness Syndrome
• Keratitis Ichthyosis Deafness Syndrome
• Ichthyosiform erythroderma, corneal involvement, deafness
• Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly
• Brachycephaly -- deafness -- cataract -- mental retardation
• Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation
• Epiphyseal dysplasia dysmorphism camptodactyly
• Arthrogrypotic hand abnormality and sensorineural hearing loss
• Arthrogryposis -- ophthalmoplegia -- retinopathy
• Arthrogryposis-like hand anomaly -- sensorineural deafness
• Campomelic dysplasia
• Campomelic dwarfism
• Camptomelic syndrome
• Camptomelic dysplasia II
• Campomelic Syndrome
• Borjeson-Forssman-Lehmann Syndrome
• Optic atrophy
• Optic atrophy -- ophthalmoplegia -- ptosis -- deafness -- myopathy
• Optic atrophy, hearing loss and peripheral neuropathy
• Optic atrophy, deafness and peripheral neuropathy
• Optic atrophy, hearing loss and peripheral neuropathy, autosomal recessive
• Optic atrophy deafness neuropathy
• Optic Atrophy -- Hearing Loss -- Peripheral Neuropathy, Autosomal Dominant
• Optic atrophy opthalmoplegia ptosis deafness myopia
• Cleft lip palate incisor and finger anomalies
• Hydrocephaly tall stature joint laxity
• Hydrocephaly tall stature joint laxity and kyphoscoliosis
• Deafness, Conductive Stapedial, With Ear Malformation and Facial Palsy
• Microcephaly, mental retardation and tracheoesophageal fistula (MMT)
• Microcephaly, mental retardation and tracheoesophageal fistula associated with features of Rett Syndrome
• Renal Magnesium Wasting -- hypercalciuria -- nephrocalcinosis -- Ocular disorders
• Renal hypomagnesemia -- hypercalciuria -- nephrocalcinosis
• Microcephaly syndactyly brachymesophalangy
• Dolichocephaly
• Craniosynostosis -- congenital heart disease -- mental retardation
• Bothnia retina dystrophy
• Cataract deafness hypogonadism
• Progressive neurodegeneration -- joint laxity -- cataract
• Microcephaly developmental delay pancytopenia
• Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes
• Deafness -- thyroid hormone resistance
• Keratosis palmoplantaris -- periodontopathia -- onychogryposis
• Intellectual deficit -- cataracts -- calcified pinnae -- myopathy
• Dentinogenesis imperfect, type 1
• Dentinogenesis imperfecta type Brandywine
• Dentinogenesis imperfect, type II
• Dentinogenesis imperfect type Brandwine
• Dentinogenesis Imperfecta Type III
• Dentinogenesis imperfecta, type II
• Dentinogenesis imperfecta, type I
• Dentinogenesis
• Spondylometaphyseal dysplasia with dentinogenesis imperfecta
• Duane Syndrome
• Duane-radial ray syndrome
• Herpes simplex encephalitis
• Duane retraction syndrome II
• Duane anomaly -- mental retardation
• Duane retraction syndrome 2
• Duane retraction syndrome IC
• Duane retraction syndrome IIA
• Duane retraction syndrome IIB
• Duane retraction syndrome IIC
• Duane retraction syndrome III
• Duane retraction syndrome I
• Duane retraction syndrome IIIA
• Duane retraction syndrome IIIB
• Duane retraction syndrome IA
• Duane retraction syndrome IIIC
• Duane retraction syndrome IB
• Carpal deformity -- micrognathia -- microstomia
• Camptodactyly -- joint contractures and facial skeletal dysplasia
• Craniosynostosis Philadelphia type
• Cerebro-facio-thoracic dysplasia
• Dominant cleft palate
• Cleft lip palate -- oligodontia -- syndactyly -- pili torti
• Bifid nose dominant
• Craniosynostosis Fontaine type
• Blepharophimosis syndrome Ohdo type
• Madokoro-Ohdo-Sonoda syndrome
• Immunodeficiency, microcephaly with normal intelligence
• Cerebral abscess
• Cerebellar abscess
• Panophthalmitis
• Perichondritis
• Rhino-orbito-cerebral phycomycosis
• Rocio encephalitis
• Venezuelan equine encephalitis
• Suppurative parotitis
• Charlin's syndrome
• Absence of septum pellucidum with porencephalia syndrome
• Achalasia -- adrenal -- alacrima syndrome
• Acute retinal necrosis syndrome
• Adolescent cataract and infertility syndrome
• Viral meningitis
• Rosenberg-Chutorian Syndrome
• Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features
• Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
• Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance
• Oral Leukoplakia Associated with Tylosis and Esophageal Carcinoma
• Depigmentation of the iris, acute, bilateral
• Bickerstaff's brainstem encephalitis
• Dentin Dysplasia, Shields Type II
• Dentin Dysplasia, Type 2
• Rootless Teeth
• Dentin dysplasia
• Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1
• Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
• Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3
• Cerebral malaria
• Lice
• Pediculosis
• Tinea capitis
• Horner's syndrome
• Anencephaly and spina bifida X-linked
• Meningocele
• Lateral meningocele syndrome
• Nevus of Ota
• Radiculomegaly of canine teeth -- congenital cataract
• Dysmorphism -- abnormal vocalization -- mental retardation
• Osteoporosis -- macrocephaly -- mental retardation -- blindness
• Corpus callosum dysgenesis X-linked recessive
• Melanoma of the ciliary body
• Nystagmus 1, congenital, X- linked
• Nystagmus, congenital motor, autosomal recessive
• Nystagmus 2, congenital, autosomal dominant
• Nystagmus 3, congenital, autosomal dominant
• Nystagmus 4, congenital, autosomal dominant
• Nystagmus, congenital motor
• Nystagmus, idiopathic congenital
• Prognathism dominant
• Amish brittle hair syndrome
• Woolly hair -- palmoplantar keratoderma -- dilated cardiomyopathy
• Friedreich ataxia -- congenital glaucoma
• Ophthalmoplegia
• Red green colour blindness
• Transmissible mink encephalopathy
• Arcus corneae
• Calcification of basal ganglia with or without hypocalcemia
• Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome
• Dialysis encephalopathy syndrome
• Hepatic encephalopathy syndrome
• Hunter glossitis
• Stargardt disease 3
• Stargardt disease 4
• Stargardt Disease
• Stargardt disease 1
• Macular degeneration, polymorphic
• Tuberculous meningitis
• Malformations in neuronal migration
• Spongiform encephalopathy
• Cerebral cavernous malformations
• Visceral myopathy familial external ophthalmoplegia
• Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay
• Cardiomyopathy -- hearing loss, type tRNA-LYS gene mutation
• Hereditary inclusion body myopathy -- joint contractures -- ophthalmoplegia
• Glycine encephalopathy, atypical mild form
• Glycine encephalopathy, classical neonatal early-onset form
• Glycine encephalopathy, transient neontal form
• Glycine encephalopathy, classical neonatal form
• Glycine encephalopathy, classical neonatal late-onset form
• Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
• Cardiomyopathy, dilated, with Woolly hair and keratoderma
• Hypertrophic branchial myopathy
• Cataract and cardiomyopathy
• Myopathy -- ophthalmoplegia -- hypoacousia -- areflexia
• Myopathy, congenital nonprogressive with Moebius and Robin sequences
• Myopathy mitochondrial -- cataract
• Myopathy congenital multicore with external ophthalmoplegia
• Minicore myopathy with external ophthalmoplegia
• Muscular dystrophy, congenital, infantile with cataract -- hypogonadism
• Muscular dystrophy -- white matter spongiosis
• Ophthalmoplegic Muscular dystrophy
• Muscular dystrophy -- congenital infantile cataract -- hypogonadism
• Facioscapulohumeral Muscular Dystrophy -- Sensorineural Hearing Loss
• Syringomyelia, medulla oblongata lesion
• Variant Creutzfeldt-Jakob disease
• Prion disease
• Fryns Syndrome
• Microphthalmia diaphragmatic hernia Fallot
• Hydrocephaly corpus callosum agenesis diaphragmatic hernia
• Nasopharyngeal teratoma with Dandy-Walker -- diaphragmatic hernia
• Diaphragmatic hernia -- exomphalos -- corpus callosum agenesis
• Diaphragmatic defect -- limb deficiency -- skull defect
• Holoprosencephaly deletion 2p
• Ocular cicatricial pemphigoid
• Retinal degeneration
• Retinal telangiectasia and hypogammaglobulinemia
• Meningoencephalocele -- arthrogryposis -- hypoplastic thumb
• Morel's ear
• Tick-borne encephalitis
• Renal tubular acidosis progressive nerve deafness
• Carcinoma, squamous cell of head and neck
• Melanoma of the choroid
• Intraocular melanoma
• Panuveitis
• Decreased cerebral perfusion
• Decreased hair growth
• Decreased lacrimation as in case of Sjogren's syndrome
• Decreased responsiveness to light
• Dominant zonular cataract
• Zonular Cataract
• Lamellar Cataract
• Cataract, Zonular Pulverulent 3
• Cataract, Zonular Pulverulent 1
• Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
• Alopecia, mental retardation and neurological problems
• Pontoneocerebellar Hypoplasia
• Dentin dysplasia, radicular
• Hypodontia -- nail dysgenesis
• Microdontia -- hypodontia -- short stature
• Microcephaly -- mental retardation -- spasticity -- epilepsy
• Smith-Fineman-Myers syndrome 1
• Smith-Fineman-Myers syndrome 2
• Pseudohermaphroditism, female -- skeletal anomalies
• Short tarsus -- absence of lower eyelashes
• Periodic fever, aphthous stomatitis, pharyngitis and adenitis
• Franek-Bocker-Kahlen syndrome
• Microcephaly brain defect spasticity hypernatremia
• Crandall syndrome
• Corpus callosum, agenesis of, blepharophimosis Robin type
• Oculocerebral dysplasia
• Diprosopia
• Craniofacial dysostosis -- arthrogryposis -- progeroid appearence
• Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies
• Loffredo-Cennamo-Cecio syndrome
• Mandibuloacral dysplasia with type A lipodystrophy
• Guizar-Vasquez-Sanchez-Manzano syndrome
• Mandibuloacral dysplasia with type B lipodystrophy
• Amaurosis congenita of Leber, type 1
• Amaurosis congenita of Leber, type 3
• Amaurosis congenita of Leber, type 5
• Amaurosis congenita of Leber, type 10
• Amaurosis congenita of Leber, type 11
• Amaurosis congenita of Leber
• Amaurosis fugax
• Glossodynia
• Colorado tick encephalitis
• Bickerstaff's brainstem encephalitis (BBE)
• Hirschsprung disease -- deafness -- polydactyly
• Al Gazali Hirschsprung syndrome
• Hirschsprung -- microcephaly -- cleft palate
• Burning mouth syndrome- Type 3
• Burning mouth syndrome, Type 1
• Burning mouth syndrome, Type 2
• Cornelia de Lange Syndrome
• Cornelia de Lange syndrome 2
• Cornelia de Lange syndrome 3
• Cornelia de Lange syndrome 1
• Crouzon Syndrome
• Craniofacial dysostosis type 1
• Crouzonodermoskeletal syndrome
• Velocardiofacial syndrome
• DiGeorge's syndrome
• DiGeorge syndrome
• Deletion 22q11
• Chromosome 22q11 Deletion Spectrum
• CATCH 22
• Shprintzen syndorme
• 22q11.2 deletion syndrome
• Chromosome 22, microdeletion 22q11
• Chromosome 22q11.2 deletion syndrome
• Chromosome 22q11 deletion
• Zellweger Syndrome
• Coffin-Siris Syndrome
• Femoral Hypoplasia-Unusual Facies Syndrome
• Wildervanck syndrome 2
• Wildervanck syndrome 3
• Miller Syndrome
• Genee-Wiedemann syndrome
• Progressive External Opthhalmoplegia, Autosomal Dominant, 5
• Progressive External Opthhalmoplegia, Autosomal Dominant, 4
• Progressive External Opthhalmoplegia, Autosomal Dominant, 3
• Progressive External Opthhalmoplegia, Autosomal Dominant, 2
• Progressive External Opthhalmoplegia, Autosomal Dominant, 1
• Progressive External Opthhalmoplegia, Autosomal Dominant
• Angioid streaks
• Serratia ear infection
• Fibrosis of extraocular muscles, congenital, 3A
• Granulomatous amoebic encephalitis
• Craniosynostosis contractures cleft
• Fibrosis of extraocular muscles, congenital, 3B
• Atrichia -- mental and growth delay
• Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth.
• Neurodegeneration due to Cerebral Folate Transport Deficiency
• Thoracic dysplasia -- hydrocephalus syndrome
• Microcephaly -- mental retardation -- retinopathy
• Tuberculous uveitis
• Glomerulonephritis -- sparse hair -- telangiectases
• Micromelic bone dysplasia with cloverleaf skull
• Cloverleaf skull micromelia thoracic dysplasia
• Hypodontia dysplasia of nails
• Brachydactyly nystagmus cerebellar ataxia
• Agyria pachygyria polymicrogyria
• Growth deficiency brachydactyly unusual facies
• Polysyndactyly orofacial anomalies
• Conductive deafness -- malformed external ear
• Osteopathia striata pigmentary dermopathy white forelock
• Yemenite deaf-blind hypopigmentation syndrome
• Hydrocephalus obesity hypogonadism
• Polydactyly postaxial dental and vertebral
• Craniofrontonasal syndrome Teebi type
• Microcephaly immunodeficiency lymphoreticuloma
• Microcephaly, hiatal hernia and nephrotic syndrome
• Microphthalmia, Lentz type
• Microphthalmia
• Microphthalmia, syndromic 1
• Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly
• Microphthalmia -- camptodactyly -- mental retardation
• Nephrotic syndrome ocular anomalies
• Ptosis -- coloboma -- trigonocephaly
• Gerstmann Syndrome
• Microphthalmia associated with colobomatous cyst
• Symphalangism -- brachydactyly -- craniosynostosis
• Spastic tetraplegic -- cerebral palsy
• Oral pharyngeal disorders
• Microcephaly with chorioretinopathy, autosomal dominant form
• Ptosis -- coloboma -- mental retardation
• Syringomas -- natal teeth -- oligodontia
• Hypoplastic right heart -- microcephaly
• Microcephaly -- pontocerebellar hypoplasia -- dyskinesia
• Hydrocephalus autosomal recessive
• Ocular motility disorders
• Cerebral palsy, spastic, diplegic
• Brain Stem Neoplasms
• Dandy Walker syndrome recessive form
• Hypodontia of incisors and premolars
• Fibromatosis, gingival 3
• Acute necrotizing ulcerative gingivitis
• Chorea, remitting with nystagmus and cataracts
• Egg shaped pupils
• Acute hemorrhagic leukoencephalitis
• Cerebral ventricle neoplasm
• Geographic Tongue
• Down Syndrome
• Patau syndrome
• Cri-du-chat syndrome
• Fragile-X Syndrome
• Machado-Joseph Disease
• Leber's hereditary optic atrophy
• Kearns-Sayre Syndrome
• Benign essential blepharospasm
• Binswanger's Disease
• Canavan disease
• Epileptic encephalopathy, early infantile, 3
• Epileptic encephalopathy, early infantile, 1
• Epileptic encephalopathy, early infantile, 2
• Aneurysm, intracranial berry, 8
• Blepharoptosis -- aortic anomaly
• Anotia -- facial palsy -- cardiac defect
• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
• HHV-6 encephalitis
• Dementia, familial Danish
• Inclusion conjunctivitis
• Macular dystrophy, concentric annular
• Cerebellar ataxia, infantile with progressive external ophthalmoplegia
• Cholestasis -- pigmentary retinopathy -- cleft palate
• Coloboma of macula
• Edward Syndrome
• Presenile dementia, Kraepelin type
• Spastic paraplegia glaucoma precocious puberty
• Leukoencephalopathy, arthritis, colitis and hypogammaglobulinemia
• Medullary sponge kidney and anodontia of permanent dentition
• Gingival fibromatosis, unusual facies, cafe-au-lait pigmentation and congenital skin telangiectases
• Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones
• Cerebrotendinous Xanthomatosus
• Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
• Familial Tetralogy of Fallot and Glaucoma
• Vascular malformations of the brain
• Retinopathy, arteriosclerotic
• Androgenetic alopecia
• Ankylosis of teeth
• Focal cortical dysplasia
• Focal cortical dysplasia type II
• Focal cortical dysplasia type IIA
• Focal cortical dysplasia type IIB
• Non-lissencephalic cortical dysplasia
• Agammaglobulinemia, microcephaly, and severe dermatitis
• Encephalopathy due to sulphite oxidase deficiency
• Natal teeth, intestinal pseudoobstruction and patent ductus
• Natal teeth intestinal pseudoobstruction patent ductus
• Cradle Cap
• Auditory Processing Disorder
• Ichthyosis -- deafness -- mental retardation -- skeletal anomaly
• Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures
• Hemeralopia, familial
• Thick skull syndrome
• Agnathia-holoprosencephaly-situs inversus
• Plagiocephaly
• Positional plagiocephaly
• Agnathia-microstomia-synotia
• Wernicke dementia
• Macrothrombocytopenia -- progressive deafness
• Auditory perceptual disorder
• Presbycusis
• Heterochromia iridis
• Recurrent infections -- short stature -- hypopigmentation -- coarse face
• Progressive cerebellocerebral atrophy
• Macular dystrophy, retinal, 2
• Infantile cerebellar atrophy
• Macular dystrophy, retinal, 3
• Compulsive face picking
• Herpes, Neonatal -- Mucocutaneous and Ocular Infection
• Acanthamoeba infection of the eye
• Oral lichen planus
• Herpetic keratitis
• Acanthamoeba keratitis
• Peripheral uveitis
• Oral lichenoid lesions
• Dacryocystitis
• Hyphema
• Keratitis
• Sensorineural hearing loss
• Giant papillary conjunctivitis
• Conjunctivitis with Pseudomembrane
• Cytomegalovirus retinitis
• Chorioretinitis
• Aerotitis syndrome
• Serpiginous choroiditis
• Xanthogranulomatous sialadenitis
• Rhinocerebral zygomycosis
• Serratia cerebral abscess
• Rhinocerebral mucormycosis
• Rubella panencephalitis
• Progressive Rubella Panencephalitis
• Superior limbic keratoconjunctivitis
• Granulomatous arthritis of childhood
• Vitreoretinal degeneration
• West nile encephalitis
• FG syndrome 1
• FG syndrome 2
• FG syndrome 3
• FG syndrome 4
• FG syndrome 5
• Pseudotumor Cerebri
• Cerebral astrocytoma, adult
• Angiosarcoma of the scalp
• Cerebellar ataxia, autosomal recessive
• Cerebellar ataxia type 1, autosomal recessive
• Cerebellar ataxia, X-linked
• Cerebellar agenesis
• Cerebellar atrophy with progressive microcephaly
• Simpson-Golabi-Behmel syndrome
• Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease
• Oral squamous cell carcinoma
• Trichoepithelioma multiple familial
• Basal cell carcinomas with milia and coarse, sparse hair
• Adenoid cystic carcinoma
• Desmoplastic cerebral astrocytoma of infancy
• Syringocystadenoma papilliferum
• Ameloblastoma
• Choroideremia
• Pierre Robin's sequence
• Pierre-Robin syndrome with fetal chondrodysplasia
• Pierre Robin sequence -- congenital heart defect -- talipes
• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
• Oculocutaneous tyrosinemia
• Woolly hair -- hypotrichosis -- everted lower lip -- outstanding ears
• X-linked mental retardation craniofacial abnormal microcephaly club
• Malocclusion -- short stature syndrome
• Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis
• Western/Eastern/California encephalitis
• Dental tissue neoplasm
• Macular dystrophy, vitelliform -- early onset
• Nipah virus encephalitis
• Fissured tongue
• Leber optic atrophy
• Fibrosis of extraocular muscles, congenital, 2
• Fibrosis of extraocular muscles, congenital, 3
• Fibrosis of extraocular muscles, congenital with synergistic divergence
• Hypomyelination and congenital cataract
• Fibrosis of extraocular muscles, congenital (FEOM)
• Fibrosis of extraocular muscles, congenital, 1
• Juvenile macular degeneration, hypotrichosis
• Aphthous stomatitis
• Paraneoplastic limbic encephalitis
• Pineoblastoma, adult
• Sialorrhea
• Ring dermoid of cornea
• Ectopia pupillae
• Methylmalonic aciduria -- microcephaly -- cataract
• Optic pathway glioma
• Acromegaly due to growth hormone-secreting pituitary adenoma
• Lactotroph adenoma
• Gliomatosis cerebri
• Desmoplastic infantile ganglioma
• Adult low grade infiltrative supratentorial Astrocytoma
• Childhood-onset cerebral X-linked adrenoleukodystrophy
• Cerebellar hypoplasia
• Cerebellar ataxia -- ectodermal dysplasia
• Cerebellar ataxia -- areflexia -- pes cavus -- optic atrophy -- sensorineural hearing loss
• Cerebellar ataxia -- intellectual deficit -- optic atrophy -- skin abnormalities
• Cerebellar Ataxia, Deafness and Narcolepsy
• Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
• Cerebellar hypoplasia -- endosteal sclerosis
• Cerebellar parenchymal degeneration
• Dementia, familial British
• Cerebellar hypoplasia -- tapetoretinal degeneration
• Hereditary non-progressive cerebellar ataxia syndrome of early onset
• Early-onset non-progressive cerebellar ataxia syndrome, dominantly inherited
• Hereditary cerebellar ataxia syndrome of early onset
• Cerebellar vermis hypoplasia -- oligophrenia -- congenital ataxia -- coloboma -- hepatic fibrosis
• Cerebral calcification cerebellar hypoplasia
• Anemia, sideroblastic spinocerebellar ataxia
• Myelocerebellar disorder
• Myoclonus, cerebellar ataxia, deafness
• Coloboma chorioretinal cerebellar vermis aplasia
• Prosencephaly -- cerebellar dysgenesis
• Porencephaly -- cerebellar hypoplasia -- malformations
• Gingival fibromatosis and growth hormone deficiency
• Papillitis
• Canavan leukodystrophy
• Leukodystrophy with oligodontia
• Vanishing white matter leukodystrophy
• Medial Medullary Syndrome
• Rokitansky Van Bogaert syndrome
• Nyssen-Van Bogaert syndrome
• Nyssen-Van Bogaert-Meyer syndrome
• Macroglossia
• Adie syndrome
• Lichen planus follicularis
• Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive
• Oto-spondylo-megaepiphyseal dysplasia, homozygous
• Otospondylomegaepiphyseal dysplasia
• Primary glaucoma, congenital
• Acute tubulointerstitial nephritis and uveitis syndrome
• Coloboma porencephaly hydronephrosis
• Coloboma of lens ala nasi
• Cystinosis, ocular nonnephropathic
• Tubulointerstitial nephritis and uveitis
• Keratitis, hereditary
• Coloboma of choroid and retina
• Cleft palate, X-linked
• Inverted smile -- occult nephropathic bladder
• Hydronephrosis with Peculiar Facies
• Molarization of anterior teeth deafness
• Optic nerve coloboma with renal disease
• SIBIDS syndrome
• Ectodermal dysplasia -- mental retardation -- central nervous system malformation
• Ectodermal dysplasia, 'pure' hair-nail type
• Ectodermal dysplasia with natal teeth, Turnpenny type
• Developmental malformations -- deafness -- dystonia
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3
• Median cleft, corpus callosum, lipoma, and cutaneous polyps
• Theodore's syndrome
• Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
• Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract
• Faciocardiomelic Syndrome
• Kahrizi Syndrome
• Endocrine-Cerebroosteodysplasia
• Cystic leukoencephalopathy without megalencephaly
• Heterotopia, Periventricular, Associated with Chromosome 5q Deletion
• Spondyloepimetaphyseal Dysplasia, Aggrecan Type
• Cousin Walbrau Cegarra Syndrome
• Jussieu syndrome
• Oromandibular and Limb Hypogenesis Syndrome, Type V
• Microcephaly-Faciocardioskeletal syndrome
• Growth Retardation, Developmental Delay, Coarse Facies and Early Death
• Zechi-Ceide Syndrome
• Trigeminal anesthesia, familial
• Hypertrophy and Asymmetry of the Facial Muscles
• Nonsyndromic deafness
• Frontotemporal dementia
• Primrose Syndrome
• Amelo-cerebro-hypohidrotic syndrome
• Gloomy syndrome
• Gloomy face syndrome
• Multifocal choroiditis
• Mitochondrial neurogastrointestinal encephalopathy syndrome
• Plasmalogenes synthesis deficiency isolated
• Hypogonadotropic hypogonadism alopecia
• Piepkorn karp hickoc syndrome
• Zunich-Kaye syndrome
• Ectodermal dysplasia -- absent dermatoglyphs
• Fischer Syndrome
• Crumpled helices and small mouth
• Hydrocephalus -- Skeletal Anomalies -- Mental Disturbance
• Hydrocephalus skeletal anomalies
• Potato nose
• Morning Glory Fundus Anomaly -- Optic Nerve Coloboma -- Porencephaly -- Hydronephrosis
• Barrow-Fitzsimmons Syndrome
• Hereditary paroxysmal cerebral ataxia
• Thomas Syndrome -- Potter Sequence with cleft lip/palate and cardiac anomalies
• Nijemegen Breakage Syndrome
• Short stature deafness neutrophil dysfunction dysmorphism
• Leiomyomatosis of oesophagus, congenital cataract and hematuria
• Cystoid Macular Edema
• Cystoid Macular Dystrophy
• Mastroiacovo de rosa satta syndrome
• Silent sinus syndrome
• Lop ears, Micrognathia and Conductive Hearing Loss
• Anterior Segment Anomalies of the Eye, Growth Retardation associated with Hypoplastic Pituitary Gland and Endocrine Abnormalities
• Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality
• Craniosynostosis cleft lip palate arthrogryposis
• Microcephaly -- facial clefting -- preaxial polydactyly
• Apelt-Gerkin-Lenz Syndrome
• OI, Type I
• Subependymoma
• Epimetaphyseal dysplasia cataract
• Al Gazali-Khidr-Prem Chandran syndrome
• Monilethrix
• Cerebral calcifications opalescent teeth phosphaturia
• Familial Treacher Collins syndrome
• Morel-Wildi syndrome
• Cerebelloolivary atrophy
• Epstein's Syndrome
• Collins-Dennis-Clarke-Pope Syndrome
• Corpus callosum dysgenesis cleft spasm
• Aksu von Stockhausen syndrome
• Cataract skeletal anomalies
• Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome
• Thrombocytopenia -- Multiple Congenital Anomalies
• Short stature mental retardation eye defects
• Retinitis pigmentosa-deafness syndrome
• Multiple vertebral anomalies unusual facies
• Cataract -- Hypertrichosis -- Intellectual Deficit
• Arena synddrome
• Beare-Stevenson cutis gyrate syndrome
• Glass-Chapman-Hockley syndrome
• Glass chapman hockley syndrome de
• Mental mixed retardation deafnes clubbed digits
• Encephalopathy due to GLUT1 deficiency
• Ramos-Arroyo Syndrome
• Ossification anomalies -- psychomotor development delay
• Patterned dystrophy of the retinal pigment epithelium
• Retinal cavernous hemangioma
• Focal facial dermal dysplasia, type I
• Tapetal-like reflex
• Norman-Roberts lissencephaly syndrome
• HARD syndrome (Hydrocephalus -- agyria -- retinal dysplasia)
• Brittle hair -- mental deficiency
• Wolfram Syndrome 2
• Wolfram Syndrome, Mitochondrial form
• DIDMOAD Syndrome, Mitochondrial form
• Cauliflower ear
• Ménière's disease
• Otosclerosis
• Vestibular neuronitis
• Perilymph fistula
• Perilymphatic fistula
• Microcephaly, primary autosomal recessive
• Trigonocephaly -- ptosis -- mental retardation
• Snowflake vitreoretinal degeneration
• Vitreoretinochoroidopathy dominant
• Iridocyclitis
• Patterned dystrophy of retinal pigment epithelium
• Short stature, Brussels type
• Macular dystrophy, retinal, 1, North Carolina type
• Retinal disinsertion syndrome
• Trichomegaly -- tapetoretinal degeneration -- growth disturbance syndrome
• Chorioretinal atrophy, progressive bifocal
• Short stature and delayed dental eruption
• Pectus excavatum macrocephaly dysplastic nails
• Retinal Vein Occlusion
• Alopecia congenita keratosis palmoplantaris
• Robinow Syndrome
• Robinow syndrome, recessive form
• Robinow syndrome, autosomal recessive
• Robinow Sorauf syndrome
• Robinow-like syndrome
• Robinow-Unger syndrome
• Liver disease -- retinitis pigmentosa -- polyneuropathy -- epilepsy
• Alport syndrome -- mental retardation -- midface hypoplasia -- elliptocytosis
• Alport syndrome with macrothrombocytopenia
• Alport Syndrome
• Alport syndrome, recessive type
• Aplasia of lacrimal and salivary glands
• Alveolar Bone Loss
• Amblyopia
• Anophthalmia cleft lip palate hypothalamic disorder
• Anophthalmia/microphthalmia -- esophageal atresia
• Anophthalmia -- Microphthalmia, isolated
• Anophthalmia -- heart and pulmonary anomalies -- intellectual deficit
• Heterotopia, periventricular, associated with chromosome 5p anomalies
• Craniosynostosis autosomal dominant
• Craniostenosis with congenital heart disease mental retardation
• Oral-facial cleft
• Polydactyly, postaxial -- dental and vertebral anomalies
• Polydactyly alopecia seborrheic dermatitis
• Papilledema
• Achalasia microcephaly
• Achalasia -- Addisonianism -- Alacrimia syndrome
• Achalasia -- alacrimia syndrome
• Polydactyly cleft lip palate psychomotor retardation
• Ectodermal dysplasia -- alopecia -- preaxial polydactyly
• Scalp defects -- postaxial polydactyly
• Syndactyly -- polydactyly -- ear lobe syndrome
• Cortical blindness -- mental retardation -- polydactyly
• Rigid mask-like face -- deafness -- polydactyly
• Pierre Robin syndrome skeletal dysplasia polydactyly
• Maxillary double lip
• Ocular convergence spasm
• Trigonomacrocephaly -- tibial defect -- polydactyly
• Hypothyroidism postaxial polydactyly mental retardation
• Cleft palate -- heart disease -- polydactyly -- absent tibia
• Megalencephaly -- polymicrogyria -- post-axial polydactyly -- hydrocephalus
• Phocomelia ectrodactyly deafness sinus arrhythmia
• Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia
• Cephalopolysyndactyly
• Limb deficiencies distal micrognathia
• Greig Cephalopolysyndactyly Syndrome
• Short ribs -- craniosynostosis -- polysyndactyly
• Craniofacial and skeletal defects
• Heart defect, tongue hamartoma and polysyndactyly
• Polysyndactyly -- trigonocephaly -- agenesis of corpus callosum
• Corpus callosum agenesis -- polysyndactyly
• Phocomelia -- thrombocytopenia -- encephalocele -- urogenital malformation
• Roberts-SC Phocomelia
• Phocomelia syndrome
• Frontonasal dysplasia -- phocomelic upper limbs
• Dentin dysplasia, coronal
• Dentin dysplasia -- sclerotic bones
• Ectrodactyly cleft palate syndrome
• Total colorblindness with Myopia
• Micrencephaly corpus callosum agenesis
• Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
• Oculo-cerebro-acral, (Roberts-like)-ectrodactyly
• Cleft lip -- palate -- ectrodactyly
• Cleft lip -- palate -- abnormal thumbs -- microcephaly
• Craniosynostosis -- fibular aplasia
• Splenogonadal fusion, limb defects, micrognathia
• Microsomia -- hemifacial -- radial defects
• Radial defect -- Robin sequence
• Eye defects -- arachnodactyly -- cardiopathy
• Incisors fused
• Fused mandibular incisors
• Craniosynostosis -- alopecia -- brain defect
• Midline field defects
• Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
• Glucose transport defect, blood-brain barrier
• Short stature -- pituitary and cerebellar defects -- small sella turcica
• Upper limb defect eye and ear abnormalities
• Arhinia-choanal atresia-microphthalmia syndrome
• Microtia, meatal atresia and conductive deafness
• Coronal synostosis, syndactyly and jejunal atresia
• Choanal atresia -- deafness -- cardiac defects -- dysmorphia
• Solitary maxillary central incisor, short stature, and choanal atresia
• Arhinia, choanal atresia, and microphthalmia
• Amelogenesis Imperfecta
• Cone rod dystrophy -- amelogenesis imperfecta
• Amelogenesis imperfecta pigmented hypomaturation type
• Amelogenesis Imperfecta 2, hypoplastic local, autosomal dominant
• Amelogenesis imperfecta local hypoplastic form
• Amelogenesis Imperfecta hypomaturation type
• Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
• Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
• Amelogenesis imperfecta, local hypoplastic form, recessive
• Amelogenesis Imperfeca, Hypoplastic, and Nephrocalcinosis
• Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies
• Ectodermal dysplasia -- ectrodactyly -- macular dystrophy
• Ectrodactyly -- cardiopathy -- dysmorphism
• Short stature -- monodactylous -- ectrodactyly -- cleft palate
• Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly
• Familial porencephaly
• Holoprosencephaly -- ectrodactyly -- cleft lip/palate
• Ectrodactyly ectrodermal dysplasia
• Anophthalmia -- hypothalamo-pituitary insufficiency
• Anophthalmia plus syndrome
• Anophthalmia with pulmonary hypoplasia
• Anophthalmia -- short stature -- obesity
• Anophthalmia -- cleft palate -- micrognathia
• Anophthalmia -- hypyothalamo-pituitary insufficiency
• Anophthalmia -- hand and foot defects -- mental retardation
• Anophthalmia -- microcephaly -- hypogonadism
• Short limbs subluxed knees cleft palate
• Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies
• Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism
• Hypothyroidism -- dermoid cyst -- cleft palate
• Growth delay -- mental retardation -- mandibulofacial dysostosis -- microcephaly -- cleft palate
• Coloboma uveal with cleft lip palate and mental retardation
• Hypothyroidism -- cleft palate
• Dextrocardia -- microphthalmia -- cleft palate -- intellectual deficit
• Craniosynostosis arthrogryposis cleft palate
• Cleft lower lip cleft lateral canthi chorioretinal
• Cleft palate -- coloboma -- deafness
• Malpuech facial clefting syndrome
• Palant cleft palate syndrome
• Cleft lip and palate -- malrotation -- cardiopathy
• Cleft lip palate -- deafness -- sacral lipoma
• Midline cleft of lower lip
• Ankyloblepharon filiforme adnatum -- cleft palate
• Cystic hygroma, lethal -- cleft palate
• Dysraphism -- cleft lip palate -- limb reduction defects
• Coloboma, cleft lip/palate and mental retardation syndrome
• Microbrachycephaly -- ptosis -- cleft lip
• EEC syndrome without cleft lip/palate
• Multiple congenital anomalies -- mental retardation -- growth failure and cleft lip/ palate
• Leg absence -- deformity -- cataract
• Syngnathia -- cleft palate
• Clefting -- ectropion -- conical teeth
• Ectodermic dysplasia -- anhidrotic -- cleft lip
• Contractures -- ectodermal dysplasia -- cleft lip palate
• Dysmorphism -- cleft palate -- loose skin
• Hypopituitarism -- micropenis -- cleft lip palate
• Meningeal angiomatosis -- cleft hypoplastic left heart
• Pachygyria, frontotemporal
• Tibial hemimelia -- cleft lip/palate
• Microcephaly, corpus callosum dysgenesis and cleft lip-palate
• Cleft lip palate pituitary deficiency
• Cleft upper lip, median -- cutaneous polyps
• Craniosynostosis exostoses nevus epibulbar dermoid
• Spastic paraparesis deafness
• Choanal atresia -- deafness -- cardiac defects -- dysmorphism
• Cerebral Amyloid Angiopathy, Familial
• Corpus callosum agenesis-neuropathy
• Leber hereditary optic neuropathy
• Night blindness, congenital stationary, autosomal dominant
• Night blindness, congenital stationary
• Night blindness -- skeletal anomalies -- unusual facies
• Night blindness, congenital stationary, type 1A
• Night blindness, congenital stationary, type 2B
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• Optic neuropathy, anterior ischemic
• Holoprosencephaly -- caudal dysgenesis
• Caudal appendage -- deafness
• Neutropenia -- monocytopenia -- deafness
• Facies unusual arthrogryposis advanced skeletal malformations
• Facial paresis, hereditary, congenital
• Cardiocranial syndrome
• Kaufman oculocerebrofacial syndrome
• Iris hypoplasia and glaucoma
• Orbital lymphangioma
• Dysgnathia complex
• Keratosis palmoplantar periodontopathy
• Keratosis focal -- palmoplantar, gingival
• Leukoencephalopathy -- palmoplantar keratoderma
• Keratoderma palmoplantar -- deafness
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
• Dyskeratosis congenita of Zinsser-Cole-Engman
• Keratosis follicularis spinulosa decalvans
• Craniosynostosis, anal anomalies, and porokeratosis
• Keratosis follicularis -- dwarfism -- cerebral atrophy
• Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma
• Alport syndrome with leukocyte inclusions and macrothrombocytopenia
• Vasterbotten dystrophy
• Hemifacial microsomia macrodactyly
• Mickulicz disease
• Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia
• Diaphanospondylodysostosis
• Ectomorphic Habitus -- Severe Mental Retardation -- Characteristic Face
• Absent corpus callosum -- cataract -- immunodeficiency
• Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation
• Achalasia -- addisonianism -- alacrima syndrome
• X-linked hydrocephalus spectrum
• Cataract -- ataxia -- deafness
• Ataxia -- oculomotor apraxia, type 1
• Apraxia, oculomotor, Cogan type
• Autoimmune limbic encephalitis
• Brooke-Fordyce trichoepitheliomas
• Keratoderma -- epithelioma -- dental abnormalities- hypogonadism
• Epileptic encephalopathy, Lennox-Gastaut type
• Camptodactyly syndrome, Guadalajara type 1
• Tel-Hashomer camptodactyly syndrome
• Camptodactyly syndrome, Guadalajara type 2
• Camptodactyly syndrome, Guadalajara type III
• Camptodactyly syndrome, Guadalajara type 3
• Camptodactyly, tall stature, and hearing loss syndrome
• Coloboma of optic nerve
• Hyperthermia induced defects
• Thrombocytopenia -- cerebellar hypoplasia -- short stature
• Corneal cerebellar syndrome
• ICF syndrome
• Craniofaciocardioskeletal syndrome
• Polymicrogyria -- turricephaly -- hypogenitalism
• Hanhart syndrome type II
• Hanhart syndrome type IV
• Hanhart Syndrome
• Hanhart syndrome type III
• Hanhart syndrome type I
• Matsoukas syndrome
• Coffin-Lowry syndrome
• Corticobasal Degeneration
• Fahr's Syndrome
• Megalencephaly
• Melkersson-Rosenthal Syndrome
• Subacute Sclerosing Panencephalitis
• Cerebelloparenchymal autosomal recessive disorder 3
• Cerebelloparenchymal disorder 3
• Cerebelloparenchymal disorder V
• Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration
• Recurring scarring aphthae
• L1 Syndrome
• Major Ulcerative Stomatitis
• Macrocephaly pigmentation large hands feet
• Trichothiodystrophy-neurocutaneous Syndrome
• Trichothiodystrophy-neurotrichocutaneous Syndrome of Pollitt
• Trichothiodystrophy, type C
• Retinitis pigmentosa -- mental retardation -- deafness
• Microcephaly -- glomerulonephritis -- Marfanoid habitus
• Larsen syndrome, dominant type
• Larsen-like syndrome, lethal form
• Eyebrows duplication syndactyly
• Larsen syndrome
• Larsen syndrome, recessive type
• Larsen-like syndrome, lethal type
• Microcephalic primordial dwarfism, Toriello type
• Pterygium of the conjunctiva
• FG Syndrome
• Scott Craniodigital Syndrome
• Filippi Syndrome
• Fraser Syndrome
• Pierre Robin Sequence
• Fountain Syndrome
• Cat's cry
• Cleidocranial dysplasia
• Multiple pterygium syndrome
• Aphakia, congenital primary
• Acromesomelic dysplasia
• Langer mesomelic dysplasia
• Melnick-Needles syndrome
• Kabuki syndrome
• Whelan syndrome
• Miller-Dieker syndrome
• Marshall syndrome
• Varadi Papp syndrome
• Bannayan-Zonana syndrome
• Mohr syndrome
• Craniofrontonasal dysplasia
• Empty sella syndrome -- primary
• Empty sella syndrome -- acquired
• Diencephalic syndrome of infancy
• IBIDS syndrome
• Xanthomatosis cerebrotendinous
• Oculodental syndrome
• Alopecia, anosmia, deafness, hypogonadism syndrome
• Microcephalic osteodysplastic primordial dwarfism, type 1
• Acalvaria
• Aglossia and situs inversus
• Popliteal pterygium syndrome
• Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies
• Supernumerary teeth and steroid dehydrogenase deficiency
• Auditory Diseases, Central
• Unusual facies, Myelodysplasia and immunodeficiency
• Obesity, hypothyroidism, craniosynostosis, cardial hypertrophy, colitis and intellectual deficiency
• Areolar atrophy of the macula
• Spondylometaphyseal dysplasia -- cone-rod dystrophy
• Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
• Spondylometaphyseal dysplasia, X-linked
• VACTERL hydrocephaly
• VACTERL with hydrocephalus, X-linked
• VACTERYL hydrocephaly
• VACTERL association with hydrocephaly, X-linked
• Autoimmune polyendocrinopathy syndrome, type 1
• Herpangina
• Stickler's syndrome
• Stickler Syndrome
• Stickler Syndrome, type II
• Stickler Syndrome, type III
• Stickler Syndrome, type I
• Anotia
• Thanatophoric dysplasia, type 2
• Thanatophoric dysplasia, type 1
• Osteogenesis imperfecta congenita, microcephaly, and cataracts
• Francois dyscephalic syndrome
• Multiple synostosis syndrome
• Oculocerebral syndrome with hypopigmentation
• Tooth and Nail syndrome
• Muscle-eye-brain syndrome
• Parenchymatous cortical degeneration of cerebellum
• Intracranial arteriovenous malformation
• Deafness, vitiligo, achalasia
• Labyrinthitis syndrome
• Spastic quadriplegia -- retinitis pigmentosa -- mental retardation
• Spinal atrophy -- ophthalmoplegia -- pyramidal syndrome
• Erosive pustular dermatosis of the scalp
• Encephalopathy progressive -- optic atrophy
• Nijmegen Breakage Syndrome
• Senior-Loken syndrome 5
• Senior-Loken syndrome 6
• Kenny-Caffey Syndrome
• Senior-Loken Syndrome
• Senior-Loken syndrome 4
• Senior-Loken syndrome 3
• Senior-Loken syndrome 1
• Kenny-Caffey syndrome, Type 2
• Kenny-Caffey syndrome, Type 1
• Aplasia cutis congenita -- epibulbar dermoids
• Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
• Otodental dysplasia
• Otosclerosis, familial
• Short stature -- cranial hyperostosis -- hepatomegaly
• Craniomicromelic syndrome
• Digitorenocerebral syndrome
• Craniofaciocervical osteoglyphic dysplasia
• Microcephaly -- deafness syndrome
• Recurrent peripheral facial palsy
• Nova syndrome
• Polyneuropathy -- mental retardation -- acromicria -- premature menopause
• Scalp -- ear -- nipple syndrome
• Gingival fibromatosis, dominant
• Dissecting cellulitis of the scalp
• Knuckle pads, leukonychia and sensorineural deafness
• Taurodontia -- absent teeth -- sparse hair
• Meckel syndrome type 2
• Nephrosis -- deafness -- urinary tract -- digital malformation
• Microcephaly -- oculo-digito-esophageal-duodenal syndrome (MODED)
• Renpenning syndrome
• Renpenning syndrome 1
• Lysteria monocytoigeneses meningitis
• Meckel Syndrome
• Meckel syndrome type 3
• Meckel syndrome, type 5
• Oculodentoosseous dysplasia dominant
• Steatocystoma multiplex -- natal teeth
• Popliteal pterygium syndrome, lethal type
• Pterygium, Popliteal, lethal type
• Arachnodactyly -- mental retardation -- dysmorphism
• Familial nasal acilia
• Anonychia -- microcephaly
• Coloboma -- hair abnormality
• Oculocerebral hypopigmentation syndrome, type Preus
• Congenital heart disease, ptosis, hypodontia, craniosynostosis
• Oculorenocerebellar syndrome
• Cerebro oculo genital syndrome
• Neurofaciodigitorenal syndrome
• Microcephaly, autosomal dominant
• Coarse face -- hypotonia -- constipation
• Microcephalic osteodysplastic primordial dwarfism, type 2
• Teeth noneruption of with maxillary hypoplasia and genu valgum
• Microcephalic osteodysplastic primordial dwarfism, type 3
• Odontomicronychial dysplasia
• Septooptic dysplasia -- digital anomalies
• Microcephaly -- microphthalmos -- blindness
• Narrow oral fissure -- short stature -- cone-shaped epiphyses
• Rasmussen subacute encephalitis
• Spastic paresis -- glaucoma -- mental retardation
• Gingival fibromatosis -- facial dysmorphism
• Microcornea -- glaucoma -- absent frontal sinuses
• Ankyloglossia -- heterochromia -- clasped thumbs
• Oculodigitoesophagoduodenal syndrome
• Syndactyly -- cataract -- mental retardation
• Trichodermodysplasia -- dental alterations
• Colobomatous microphthalmia -- heart disease -- hearing loss
• Facial dysmorphism -- shawl scrotum -- joint laxity syndrome
• Glossopalatine ankylosis -- micrognathia -- ear anomalies
• Haspeslagh Fryns Muelenaere syndrome
• Pilotto syndrome
• Congenital cystic eye, multiple ocular and intracranial anomalies
• Ectodermal dysplasia -- mental retardation -- CNS malformation
• Macrogyria, pseudobulbar palsy and mental retardation
• Schizophrenia -- mental retardation -- deafness -- retinitis
• Dinno-Shearer-Weisskopf syndrome
• Otoonychoperoneal syndrome
• Marfanoid -- mental retardation syndrome autosomal
• Ectodermal dysplasia -- neurosensory deafness
• Hemimegalencephaly
• Meningoencephalocele
• Short stature -- talipes -- natal teeth
• Microcephaly, primary autosomal recessive, 3
• Rodrigues blindness
• Optic nerve disorder
• Skeletal dysplasia -- coarse facies -- mental retardation
• Microcephaly, Amish type
• Multifocal heterotopia
• Subcortical laminar heterotopia
• Marginal glioneuronal heterotopia
• Periventricular laminar heterotopia
• Heterotopia, periventricular, autosomal recessive
• Hereditary nodular heterotopia
• Subependymal nodular heterotopia
• Familial band heterotopia
• Chondrodysplasia punctata, Sheffield type
• Chondrodysplasia punctata, brachytelephalangic
• Chondrodysplasia Punctata, Rhizomelic type
• Coloboma of optic papilla
• Acrocephaly -- pulmonary stenosis -- mental retardation
• Coloboma of iris
• Coloboma of Alar-nasal cartilages with telecanthus
• Microtia with nasolacrimal duct imperforation and eye coloboma
• Infantile idiopathic hypercalciuria, congenital myopia, macular coloboma
• Hypercalciuria macular coloboma
• Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation
• Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia
• Alar cartilages hypoplasia -- coloboma -- telecanthus
• Nasopalpebral lipoma -- coloboma syndrome
• Coloboma of macula, type B brachydactyly
• Trigonocephaly -- ptosis -- coloboma
• Granulomas, congenital cerebral
• Frontotemporal dementia, ubiquitin-positive
• Odontoma
• Cheilitis glandularis
• Bd syndrome
• Bullous dystrophy, macular type
• Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation
• Cerebellum agenesis -- hydrocephaly
• Vitelliform Macular Dystrophy -- adult-onset
• Macular dystrophy, vitelliform
• Best Vitelliform Macular Dystrophy
• Synovitis granulomatous with uveitis and cranial neuropathies
• Leukoencephalopathy -- metaphyseal chondrodysplasia
• Unusual facies, digital anomalies, and supernumerary teeth
• Unusual facies, skeletal abnormalities, communicating hydrocephalus
• Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures
• Encephalopathy, familial, with neuroserpin inclusion bodies
• Unusual facies, hepatic fibrosis, renal cysts and mental retardation
• Unusual facies, renal and Mullerian hypoplasia and severe somatic and mental retardation
• Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa
• Gnathodiaphyseal dysplasia
• Earlobes thickened conductive deafness from incudo
• Craniofacioskeletal syndrome
• Holoprosencephaly, recurrent infections, and monocytosis
• Long thumb brachydactyly, maxillary hypoplasia, mental retardation and unusual facies
• Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot
• Hemorrhagic shock and encephalopathy syndrome
• Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty
• Osteoporosis -- macrocephaly -- blindness -- joint hyperlaxity
• Corpus callosum agenesis -- blepharophimosis -- Robin sequence
• Microcephaly micropenis convulsions
• Encephalocele anterior
• Exencephaly
• Taurodontism
• Acromegaloid hypertrichosis syndrome
• Acrofrontofacionasal dysostosis syndrome
• Acromicric dysplasia
• 3C syndrome
• Acromesomelic dysplasia, Maroteaux type
• Acrofacial dysostosis Preis type
• Macrocephaly, benign familial
• Amelo-onycho-hypohidrotic syndrome
• Clayton-Smith Donnai syndrome
• Hyperferritinemia, hereditary with congenital cataracts
• Bone fragility, craniosynostosis, proptosis, hydrocephalus
• Maxillo-nasal dysostosis
• Shprintzen-Golberg craniosynostosis
• Shprintzen-Goldberg syndrome
• Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis
• Opitz syndrome , X-linked
• Pierre Robin syndrome -- fetal chondrodysplasia
• Blepharochalasia -- double lip
• Double Upper and Lower Lip -- Hypertelorism -- Ptosis -- Blepharophimosis -- clinodactyly
• Syndactyly type 1 -- microcephaly -- mental retardation
• Macrocephaly -- short stature -- paraplegia
• Aniridia ptosis mental retardation obesity familial type
• Microcephaly brachydactyly kyphoscoliosis
• Short stature deafness neutrophil dysfunction
• Cataract -- aberrant oral frenula -- growth delay
• Blepharophimosis ptosis esotropia syndactyly short
• Hydrocephalus -- growth delay -- skeletal anomalies
• Opthalmoplegia ataxia hypoacusis
• Corpus callosum dysgenesis hypopituitarism
• Pigment-dispersion syndrome
• Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome
• Agyria-pachygyria type 1
• Birdshot retinochoroidopathy syndrome
• Bietti's crystalline dystrophy
• Choroidal dystrophy central areolar
• Armendares syndrome
• HERNS syndrome
• Hypomyelination -- congenital cataract
• Nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia and severe mental retardation
• Robin sequence oligodactyly
• Desbuquois dysplasia
• Congenital craniosynostosis maternal hyperthyroiditis
• Andogsky's syndrome
• Hunter-MacDonald syndrome
• Parietal foramina 2
• Chondrodysplasia punctata lethal neonatal
• Unusual facies, oligodontia and precocious choroid calcifications
• Macrocephaly, rhizomelia and conductive hearing loss
• Alezzandrini syndrome
• Multiple pterygium syndrome, autosomal recessive
• Facio-cardio-musculo-skeletal syndrome
• Hypomyelination -- hypogonadotropic hypogonadism -- hypodontia
• Taurodontism and disproportionate short stature
• Craniodiaphyseal dysplasia, autosomal dominant
• Oto-facio-osseous-gonadal syndrome
• Oligodontia, microcephaly, short stature and characteristic facies
• Oligodontia and congenital sensorineural hearing loss
• Craniometadiaphyseal dysplasia, wormian bone type
• Dauwerse-Peters syndrome
• Anterior segment mesenchymal dysgenesis
• Vulvovaginal gingival syndrome
• Fochs-LADD
• CRAPB
• Hypotonia -- failure to thrive -- microcephaly
• Growth delay due to insulin-like growth factor I deficiency
• Bestrophinopathy, atuosomal recessive
• Blepharophimosis, ptosis, polythelia and brachydactyly
• Accommodative effort
• Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation
• Short stature and short, thin, dilacerated dental roots
• Unusual facies and autosomal dominant hypohidrotic ectodermal dysplasia
• Agenesis of salivary glands and lacrimal glands
• Basal ganglia disease, biotin-responsive
• Bannwarth's triad
• Krieble Bixler syndrome
• Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation
• Midline craniofacial anomalies and morning glory disc anomaly
• Craniostenosis cataract
• Gingival fibromatosis and dental abnormalities
• Microcephalic osteodysplastic dysplasia, Saul-Wilson type
• Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3
• Anodontia and strabismus
• Unusual facies, short stature, enamel hypoplasia, stiff joints and high-pitched voice
• Rhombencephalosynapsis
• Mesomelia radial hypoplasia bifid thumb unusual facies
• Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3
• Hydrophthalmos
• Vestibulocochlear Nerve Diseases
• Oligodontia, keratitis, skin ulceration and arthroosteolysis
• Weaver like syndrome
• Iridogoniodysgenesis and skeletal anomalies
• Heckenlively syndrome
• Choroiditis, serpiginous
• Essential iris atrophy
• Vernal keratoconjunctivitis
• Vestibulocochlear dysfunction progressive familial
• Enlarged vestibular aqueduct syndrome
• Foramina parietalia permagna
• Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face
• Hereditary vascular retinopathie -- Raynaud phenomenon -- migraine
• Atrophia aerata
• Sparse hair -- short stature -- skin anomalies
• Hersh-Podruch-Weisskopk syndrome
• Hydrocephaly low insertion umbilicus
• Ossification anomalies -- psychomotor development
• Pseudophakia
• Cranio-facio-cardio-skeletal dysplasia
• Asthenopia
• Craniorachischisis
• Houlston ironton temple syndrome de
• Riddle syndrome
• Vestibulocochlear dysfunction progressive familial type
• Koussef nichols syndrome
• Gracile bone dysplasia
• Stevenson-Carey syndrome
• Craniotubular syndrome
• Calvarial doughnut lesions -- bone fragility
• Lymphoedema -- cerebral arteriovenous anomaly
• Hand-Foot-Mouth Syndrome
• Lumbar malsegmentation, short stature and facial anomalies
• Unusual facies, hypotonia, mental retardation and radioulnar synostosis
• Limbic encephalitis -- neuromyotonia -- hyperhidrosis -- polyneuropathy
• Florid cemento-osseous dysplasia
• Craniofacial -- deafness -- hand syndrome
• Radio digito -- facial dysplasia
• Arrhinia
• Osteoporosis -- oculocutaneous -- hypopigmentation syndrome
• Hypogonadism -- retinitis pigmentosa
• Short limb dwarf mental retardation myopia
• Grayson-Willbrandt syndrome
• Moyamoya Disease
• Parry Romberg Syndrome
• Pick's Disease
• Septo-Optic Dysplasia
• Soto's Syndrome
• Sturge-Weber Syndrome
• Wallenberg's Syndrome
• Williams Syndrome
• TMJ Syndrome
• Adenoid cystic carcionoma
• McCune-Albright Syndrome
• Neuromyelitis Optica
• Intracranial arachnoid cysts
• Apert syndrome
• Cholesteatoma
• Trachoma
• Wernicke's encephalopathy
• Chalazion
• Chloasma
• Papilloedema
• Parotitis
• Quinsy
• Cheilitis
• Sphenoid Sinusitis
• Cadasil
• Adies Syndrome
• GSS
• Neu-Laxova Syndrome
• Moyamoya Syndrome
• Frey Syndrome
• Walker-Warburg Syndrome
• Oculo-osteo-cutaneous syndrome
• Oculo-oto-facial dysplasia
• Osteopaenia -- myopia -- hearing loss -- intellectual deficit -- facial dysmorphism
• Renal dysplasia hepatic fibrosis dandy walker
• Retinitis pigmentosa deafness hypogenitalism
• Retinitis punctata albescens
• Seizures mental retardation hair dysplasia
• Sensorineural hearing loss, early greying, and essential tremor
• Sorsby's fundus dystrophy
• Polyneuropathy -- Ophthalmoplegia -- Leukoencehalopathy -- Intestinal Pseudo-Obstruction
• Spondylo-ocular syndrome
• Primordial short stature -- microdontia -- opalescent and rootless teeth
• Cataract dental syndrome
• Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
• Acrodysostosis
• Acute Posterior Multifocal Placoid Pigment Epitheliopathy
• Nance-Horan Syndrome
• Cronkhite-Canada Syndrome
• Singleton-Merten Syndrome
• Horner Syndrome
• Pars Planitis
• Coats Disease
• Binswanger Disease
• Eales Disease
• Marden-Walker Syndrome
• Rieger Syndrome
• Weill-Marchesani Syndrome
• Smith-Magenis Syndrome
• XLMR-Hypotonic Facies Syndrome
• Wolf-Hirschhorn Syndrome
• Simpson Dysmorphia Syndrome
• Alopecia -- macular degeneration -- growth retardation
• Cerebrorenodigital syndrome
• Granulomatous rosacea
• 3-M Syndrome
• Hay-Wells Syndrome
• Hay-Wells syndrome, recessive type
• Bjornstad syndrome
• LEOPARD Syndrome
• Cat Eye Syndrome
• Norrie Disease
• Diencephalic Syndrome
• Aase-Smith I syndrome
• Mulibrey Nanism syndrome
• Vogt-Koyanagi-Harada Syndrome
• Aarskog Syndrome
• Schinzel Giedion Syndrome
• Pachydermoperiostosis
• Treacher-Collins Syndrome
• Hallermann-Streiff Syndrome
• Acrocallosal Syndrome (Schinzel Type)
• Bloom Syndrome
• Baller-Gerold Syndrome
• Pallister-Killian Syndrome
• Dubowitz Syndrome
• Cherubism
• Cardiofaciocutaneous Syndrome
• C Syndrome
• CHARGE Syndrome
• Cerebrocostomandibular Syndrome
• Floating Harbor Syndrome
• Nager Syndrome
• MULIBREY Nanism
• KBG Syndrome
• Johanson-Blizzard Syndrome
• Craniofrontonasal Syndrome
• Marshall-Smith Syndrome
• Roberts Pseudothalidomide Syndrome
• Choroido cerebral calcification syndrome infantile form
• C-like syndrome
• Cogan's syndrome
• Pallister Killian Mosaic Syndrome
• Pallister Mosaic Syndrome Tetrasomy 12p
• Acrosphenosyndactylia
• Jequier-Kozlowski-skeletal dysplasia
• Sketetal dysplasia coarse facies mental retardation
• Jansen type metaphyseal chondrodysplasia
• Cranio osteoarthropathy
• Moore Smith Weaver syndrome
• Retinopathy -- anaemia- CNS anomalies
• Acromegaloid facies -- hypertrichosis
• Franceschetti-Klein syndrome
• Mastocytosis -- short stature -- hearing loss
• Dermatostomatitis, Stevens Johnson type
• Finlay-Markes syndrome
• Blepharophimosis -- nasal groove -- growth delay
• Beveridge syndrome
• Guizar-Vasquez-Luengas syndrome
• Cantu syndrome
• Brachio-Skeletal-Genital Syndrome
• Angelman-Like Syndrome, X-linked
• Thanos-Stewart-Zonana Syndrome
• Hing Torack Dowston syndrome
• Braddock Jones Superneau syndrome
• Cantu Sanchez-Corona Garcia-cruz syndrome
• Thyrocerebral-retinal syndrome
• Hagemoser Weinstein Bresnick syndrome
• Moebius sequence
• Moebius syndrome 1
• Borud Syndrome
• Cornel syndrome
• Koroxenidis Syndrome
• Periadenitis Mucosa Necrotica, Recurrent Type II
• Moebius Syndrome
• Cranio-facio-digito-genital syndrome
• Freire-Maia syndrome
• Wellesley-Carman-French Syndrome
• Taurodontism, microdontia, and dens invaginatus
• Trichomegaly cataract hereditary spherocytosis
• Axenfeld-Rieger syndrome
• Lacrimoauriculodentodigital syndrome
• Acrocallosal syndrome
• Norrie syndrome
• Hutchinson Gilford Syndrome
• Gradenigo's syndrome
• PEHO-like syndrome
• Intellectual deficit -- multiple anomalies
• APECED Syndrome
• LADD Syndrome
• Siemens syndrome
• Dancing Eye syndrome
• Glaucoma ectopia microspherophakia stiff joints short stature
• Down's Syndrome associated Alzheimer's disease
• Plateau iris syndrome
• Exploding head syndrome
• Dyck Syndrome
• Sialadenitis
• Pick's disease of the brain
• Primary craniosynostosis
• CAR syndrome
• Catatrichy
• CCFDN
• Cerebro-oculo-nasal syndrome
• Cortada Koussef Matsumoto syndrome
• Craniofacial conodysplasia
• Craniolenticulosutural dysplasia
• Daentl-Townsend-Siegel syndrome
• Dennis cohen syndrome
• Dens in dente and palatal invaginations
• Devriendt syndrome
• FOSMN syndrome
• Frey's syndrome
• Fried syndrome
• Fundus albipunctatus
• Gamborg nielsen syndrome
• Goldenhar disease
• LORD
• Maghazaji syndrome
• Mandibuloacral dysplasia
• Megarbane-Loiselet syndrome
• Morava-Mehes syndrome
• Nablus mask-like facial syndrome
• Naguib syndrome
• Quattrin mcpherson syndrome
• Rudiger syndrome
• Schopf-Schulz-Passarge syndrome
• Schwartz newark syndrome
• Schweitzer kemink malcolm syndrome
• Rollet syndrome
• Ronchese syndrome
• Rowley syndrome
• Sandrow syndrome
• Sattler veil
• Superior orbital fissure syndrome
• Tizzard syndrome
• Traumatic spreading depression syndrome
• Troell-Junet syndrome
• Uhthoff syndrome
• Vail syndrome
• Zanier-Roubicek syndrome
• Keratitis fugax hereditaria
• Acrofacial dysostosis autosomal recessive
• Acrofacial dysostosis postaxial, atypical
• ADANE
• Zellweger-like syndrome, without peroxisomal anomalies
• Craniosynostosis Maroteaux Fonfria type
• Wagner-Stickler Syndrome
• Odonto-tricho-ungual-digito-palmarn syndrome
• Oguchi disease
• OLEDAID
• Fryns-Aftimos syndrome
• Fryns macrocephaly
• Verloes-Deprez syndrome
• Volubilis, syndrome du
• Whistling face syndrome, recessive form
• Xerostomia
• Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities
• Baraitser burn fixen syndrome
• BES
• Blepharophimosis telecanthus microstomia
• BOR syndrome
• Grob syndrome
• Haenel syndrome
• Harper dwarfism
• Heerfordt syndrome
• Hilger syndrome
• Holmes syndrome
• Homen syndrome
• Hunter-Fraser syndrome
• Jorgenson syndrome
• Kreibig opticomalacia
• Macrodactyly -- Hemihypertrophy -- Connective tissue nevi syndrome
• Macula halo syndrome
• Miescher syndrome (2)
• Mikaelian syndrome
• Moynahan syndrome III
• Phillips-Griffiths syndrome
• Postconcussive syndrome
• Hydrocephalus -- growth retardation -- skeletal anomalies
• Richieri-Costa-Orquizas syndrome
• Ectodermal dysplasia, Margarita type
• Glomus tympanicum
• Kuster-Majewski-Hammerstein syndrome
• Berlin Breakage syndrome
• CAMFAK syndrome
• Kozlowski-Warren-Fisher syndrome
• Cennamo-Gangemi syndrome
• Eagle's syndrome
• Charlie M syndrome
• Hardikar syndrome
• Apraxia, Ideomotor
• Dandy-Walker variant
• Connexin 26 anomaly
• Hemifacial atrophy agenesis of the caudate nucleus
• Keratoconus posticus circumscriptus
• Combarros Calleja Leno syndrome
• Distal arthrogryposis, Moore-Weaver type
• Bamforth syndrome
• Cortes-Lacassie syndrome
• Escobar syndrome, type B
• Hunter-Mcdonald syndrome
• Ho Kaufman-Mcalister syndrome
• Acrofacial dysostosis -- ambiguous genitalia
• Dysostosis acral with facial and genital abnormalities
• Hutchinson incisors
• Double cortex syndrome
• Basilar impression primary
• Auriculo-condylar syndrome
• Acute posterior multifocal placoid pigment
• Wagner syndrome 1
• Johnson-Hall-Krous syndrome
• Burnett-Schwartz-Berberian syndrome
• Jones-Hersh-Yusk syndrome
• Akaba-Hayasaka syndrome
• Hordnes-Engebretsen-Knudtson syndrome
• Cortada-Kousseff-Matsumoto syndrome
• Christian's syndrome 1
• Hydrocephalus -- craniosynostosis -- bifid nose
• Frints -- De Smet -- Fabry -- Fryns syndrome
• Die-Smulders-Vles-Fryns syndrome
• Cataract, alopecia, sclerodactyly
• Calabro syndrome
• Iida-Kannari syndrome
• Genoa syndrome
• Calloso-genital dysplasia
• Campomelia Cumming type
• Erythroplakia
• Fuchs atrophia gyrata chorioideae et retinae
• Hutterite cerebroosteonephrodysplasia syndrome
• Alopecia universalis -- onychodystrophy -- vitiligo
• Arroyo -- Garcia -- Cimadevilla syndrome
• Hypoplasia hepatic ductular
• Follicular hamartoma -- alopecia -- cystic fibrosis
• Boscherini-Galasso-Manca-Bitti syndrome
• Brachioskeletogenital syndrome
• Cartilage-hair hypoplasia-like syndrome
• Chitayat-Moore-Del Bigio syndrome
• Ghose-Sachdev-Kumar syndrome
• Frontofacionasal dysplasia type Al gazali
• Poncet-Spiegler's cylindroma
• Cousin Walbraum Cegarra syndrome
• Bosma-Henkin-Christiansen syndrome
• Burn-McKeown syndrome
• Lindstrom syndrome
• Cerebrorenodigital syndrome with limb malformations and triradiate acetabula
• Cardioauditory syndrome of Sanchez- Cascos
• Gupta-Patton syndrome
• Frontonasal malformation -- cloacal exstrophy
• Hypertelorism and tetralogy of Fallot
• Elattoproteus syndrome
• Kozlowski-Rafinski-Klicharska syndrome
• Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
• Dentatorubral pallidoluysian disorder
• Amastia, bilateral, with ureteral triplication and dysmorphism
• Angelucci's syndrome
• Argyll-Robertson syndrome
• Babinski-Nageotte syndrome
• Balint's syndrome
• Benedikt's syndrome
• Bonnier's syndrome
• Brugsch's syndrome
• Brun's syndrome
• Brushfield-Wyatt syndrome
• Alajouanine syndrome
• Satchmo syndrome
• Ascher syndrome
• Ashley syndrome
• Atkin-Flatiz syndrome
• Bartenwerfer syndrome
• Bartschi-Rochaix syndrome
• Benjamin syndrome
• Benson disease
• Billroth disease (1)
• Blepharochalasis syndrome
• Blind spot syndrome
• Bosviel syndrome
• Alopecia breakdancia
• Brown-McLean syndrome
• Cervenka's syndrome
• Dubreuil-Chambardel syndrome
• Enslin syndrome
• Fanconi-Albertini-Zellweger syndrome
• Favre-Goldman syndrome
• Forsius-Eriksson syndrome
• Franke triad
• Giacomini disease
• Golden-Lakin syndrome
• MoyaMoya disease 1
• Oral submucous fibrosis
• Pfeiffer-Hirschfelder-Rott syndrome
• Milner-Khallouf-Gibson syndrome
• Punctate inner choroidopathy
• Maroteaux-Fonfria syndrome
• Hypomandibular faciocranial dysostosis
• Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• Temporo-mandibular ankylosis
• Omodysplasia -- dominant type
• Panostotic fibrous dysplasia
• Robinson-Miller-Bensimon syndrome
• Ouvrier-Billson syndrome
• Al Gazali-Khidr-Prem Chandran
• Hyde-Forster-Mccarthy-Berry syndrome
• Short stature -- dysmorphic face -- pelvic scapula dysplasia
• Megarbane syndrome
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
• Siderius type X-linked mental retardation syndrome
• Metaphyseal dysostosis mental retardation conductive deafness
• Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
• Microspherophakia with hernia
• Schrander-Stumpel, Theunissen, Hulsmans syndrome
• Micro syndrome
• Sener syndrome
• Scholte syndrome
• Peters anomaly with cataract
• Say syndrome
• Akesson syndrome
• Patel-Bixler syndrome
• Schaefer-Stein-Oshman syndrome
• Samson-Gardner syndrome
• Muller-Barth-Menger syndrome
• Pointer syndrome
• Temtamy syndrome
• Hoyeraal-Hreidarsson syndrome
• Supranuclear ocular palsy
• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
• Quinquaud's decalvans folliculitis
• Pfeiffer-Tietze-Welte syndrome
• MoyaMoya disease 2
• MoyaMoya disease 3
• Howard-Young syndrome
• Reynolds-Neri-Hermann syndrome
• Sparse hair -- ptosis -- mental retardation
• McPherson-Robertson-Cammarano syndrome
• Naxos disease
• Ptosis -- strabismus -- ectopic pupils
• Megalencephaly -- cutis marmorata telangiectatica congenita
• Jacobsen syndrome
• Nathalie syndrome
• Nakajo syndrome
• Delayed membranous cranial ossification
• Harrod Doman Keele syndrome
• Oculofaciocardiodental syndrome
• Spondylocostal dysostosis, Dandy-Walker
• Ectodermal dysplasia -- blindness
• Loose anagene syndrome
• PARC syndrome
• Pseudopapilledema -- blepharophimosis -- hand anomalies
• Thiele syndrome
• Davis-Lafer syndrome
• Aplasia cutis myopia
• Daish-Hardman-Lamont syndrome
• Aphalangia -- syndactyly -- microcephaly
• Corpus callosum agenesis -- double urinary collecting system
• McDowall syndrome
• Oro acral syndrome
• Frank-Ter Haar syndrome
• Richieri Costa Guion Almeida Cohen syndrome
• Fraser-like syndrome
• Marden-Walker-like syndrome
• Macrosomia with lethal microphthalmia
• Robin sequence and oligodactyly
• Sonoda syndrome
• Kaplan-Plauchu-Fitch syndrome
• Microcornea -- corectopia -- macular hypoplasia
• Lambdoid synostosis familial
• Auralcephalosyndactyly
• Salti-Salem syndrome
• Furlong-Kurczynski-Hennessy syndrome
• Enchondromatosis-dwarfism-deafness
• Dermo-odontodysplasia
• MOMO syndrome
• Escher-Hirt syndrome
• Lachiewicz-Sibley syndrome
• Potocki-Shaffer syndrome
• Thomas syndrome
• Jung-Wolff-Back-Stahl syndrome
• Gollop syndrome
• Dobrow syndrome
• Microcephaly -- hypergonadotropic hypogonadism -- short stature
• Fontaine-Farriaux-Blanckaert syndrome
• Plum syndrome
• Montefiore syndrome
• Siegler-Brewer-Carey syndrome
• Craniodigital syndrome -- mental retardation
• Lowry-Maclean syndrome
• Polyostotic osteolytic dysplasia, hereditary expansile
• Tetraamelia -- multiple malformations
• Faciooculoacousticorenal syndrome
• Levic-Stefanovic-Nikolic syndrome
• Oculo skeletal renal syndrome
• Say-Carpenter syndrome
• Ichthyosis -- alopecia -- eclabion -- ectropion -- mental retardation
• Hyperphalangism -- dysmorphy -- bronchomalacia
• Lubinsky syndrome
• Fine-Lubinsky syndrome
• Say-Meyer syndrome
• Stoll-Geraudel-Chauvin syndrome
• Cerebro oculo skeleto renal syndrome
• Katsantoni-Papadakou-Lagoyanni syndrome
• Retinohepatoendocrinologic syndrome
• Focal alopecia congenital -- megalencephaly
• Facioskeletalgenital syndrome, Rippberger type
• Loeys-Dietz syndrome
• Oculomaxillofacial dysostosis
• Sclerocornea, Syndactyly, ambiguous genitalia
• Megalencephalic leukoencephalopathy with subcortical cysts
• De Hauwere Leroy Adriaenssens syndrome
• Arnold Stickler Bourne syndrome
• Dandy-Walker -- facial hemangioma
• Imaizumi Kuroki syndrome
• Partington-Anderson syndrome
• Lurie-Kletsky syndrome
• Thomas-Jewett-Raines syndrome
• Rieger syndrome 2
• Dermatocardioskeletal syndrome, Boronne type
• Snyder-Robinson syndrome
• Facial asymetry -- temporal seizures
• Petty-Laxova-Wiedemann syndrome
• Dennis-Fairhurst-Moore syndrome
• Faciocardiomelic dysplasia, lethal
• Ectodermal dysplasia mental retardation syndactyly
• Corneodermatoosseous syndrome
• Tollner-Horst-Manzke syndrome
• Blepharophimosis -- nasal groove -- growth retardation
• Ausems Wittebol-Post Hennekam syndrome
• Paris-Trousseau thrombocytopenia
• Kozlowski-Brown-Hardwick syndrome
• Hemihypertrophy -- intestinal web -- corneal opacity
• Metaphyseal dysplasia -- maxillary hypoplasia -- brachydactyly
• Singh-Chhaparwal-Dhanda syndrome
• Herrmann-Opitz craniosynostosi
• Kleeblattschaedel syndrome
• Steroid dehydrogenase deficiency -- dental anomalies
• Patterson-Stevenson syndrome
• Fryns-Smeets-Thiry syndrome
• Halal syndrome
• Trigonocephaly -- bifid nose -- acral anomalies
• Cyprus facial neuromusculoskeletal syndrome
• HEC syndrome
• Arena syndrome
• ECP syndrome
• Dionisi-Vici-Sabetta-Gambarara syndrome
• D ercole syndrome
• Teebi-Kaurah syndrome
• Fara-Chlupackova syndrome
• Ectopia lentis, isolated
• Blepharo facio skeletal syndrome
• Cohen-Hayden syndrome
• Ischiopatellar dysplasia
• Spondyloepimetaphyseal dysplasia joint laxity
• SCARF syndrome
• Faciothoracogenital syndrome
• Euhidrotic ectodermal dysplasia
• Mehes syndrome
• Corneal dystrophy -- pigmentary anomaly -- malabsorption
• Peters anomaly
• Short stature -- prognathism -- short femoral necks
• Loose anagen syndrome
• Oculo cerebro acral syndrome
• Frias syndrome
• Retinopathy -- anemia -- CNS anomalies
• Thakker-Donnai syndrome
• Steinfeld syndrome
• Fukuda-Miyanomae-Nakata syndrome
• Cerebral gigantism -- jaw cysts
• Pfeiffer-Mayer syndrome
• Posterior column ataxia with retinitis pigmentosa
• Richieri Costa Guion-Almeida syndrome
• Tunglang-Savage-Bellman syndrome
• Gms syndrome
• Velofacioskeletal syndrome
• Stoll-Alembik-Finck syndrome
• Oto-Palatal-digital syndrome
• Palmer-Pagon syndrome
• McDonough syndrome
• Ayazi syndrome
• Mickleson syndrome
• GEMSS syndrome
• Ectodermal dysplasia, Berlin type
• Trigonocephaly -- broad thumbs
• Cochleosaccular degeneration of the inner ear and progressive cataracts
• Opthalmo acromelic syndrome
• Say-Barber-Miller syndrome
• Czeizel syndrome
• Aughton syndrome
• Collins-Sakati syndrome
• Reardon-Hall-Slaney syndrome
• Fernhoff-Blackston-Oakley syndrome
• Ferlini-Ragno-Calzolari syndrome
• Edinburgh malformation syndrome
• McGillivray syndrome
• Spondyloepimetaphyseal dysplasia with hypotrichosis
• Thies Reis syndrome
• Goldblatt-Wallis syndrome
• Freire-Maia odontotrichomelic syndrome
• Proliferating trichilemmal cyst
• Single upper central incisor
• Smith-Martin-Dodd syndrome
• Faciodigitogenital syndrome, recessive form
• Halal Setton Wang syndrome
• Pierson syndrome
• Stalker-Chitayat syndrome
• Dincsoy-Salih-Patel syndrome
• Collins-Pope syndrome
• Moloney syndrome
• Daentl-Towsend-Siegel syndrome
• Sanderson-Fraser syndrome
• Teebi-Shaltout syndrome
• Tsukuhara syndrome
• Engelhard-Yatziv syndrome
• Faye-Petersen-Ward-Carey syndrome
• Coxoauricular syndrome
• MacDermot-Winter syndrome
• Sengers-Hamel-Otten syndrome
• Sequeiros-Sack syndrome
• Kennerknecht-Sorgo-Oberhoffer syndrome
• Garret-Tripp syndrome
• Samson-Viljoen syndrome
• Satoyoshi syndrome
• Ellis-Yale-Winter syndrome
• Toriello-Higgins-Miller syndrome
• Pilo dento ungular dysplasia -- microcephaly
• Jorgenson-Lenz syndrome
• Retinis pigmentosa -- deafness -- hypogenitalism
• Pitt-Hopkins syndrome
• Mowat-Wilson syndrome
• Kaplowitz-Bodurtha syndrome
• Okamuto Satomura syndrome
• Renal-genital-middle ear anomalies
• Kosztolanyi syndrome
• Grix-Blankenship-Peterson syndrome
• Thyroglossal tract cyst
• Renal caliceal diverticuli -- deafness
• Ectodermal dysplasia trichoodontoonychial type
• Nevus of ota retinitis pigmentosa
• Arthritis -- short stature -- deafness
• Paraneoplastic cerebellar degeneration
• Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Telencephalic leukoencephalopathy
• Char syndrome
• Mondini Dysplasia
• Simosa craniofacial syndrome
• Omodysplasia
• Myhre-Ruvalcaba-Graham syndrome
• Renier-Gabreels-Jasper syndrome
• Seow-Najjar syndrome
• Hunter-Carpenter-Macdonald syndrome
• Hunter-McAlpine syndrome
• Schroer-Hammer-Mauldin syndrome
• Doyne syndrome
• Simell-Takki syndrome
• Illum syndrome
• Puretic syndrome
• Lanzietri syndrome
• Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
• Emery-Nelson syndrome
• Laugier-Hunziker syndrome
• Dysosteosclerosis
• Holzgreve-Wagner-Rehder syndrome
• Lowry syndrome
• Perisylvian syndrome
• Rolland-Desbuquois syndrome
• Kapur-Toriello syndrome
• Multiple synostoses syndrome 1
• Pseudoaminopterin syndrome
• Pitt-Rogers-Danks syndrome
• Acromegaloid facial appearance syndrome
• Brown-Vialetto-Van Laere syndrome
• Brachymetapody, anodontia, hypotrichosis, albinoidism
• Brain -- bone -- fat
• Pallister-Ulnar mammary syndrome
• Encephalitis lethargica
• Lowry-Wood syndrome
• Acrofacial dysostosis Rodriguez type
• Acromesomelic dysplasia Brahimi Bacha type
• Colpocephaly
• Geniospasm
• Aldred syndrome
• Allain Babin Demarquez syndrome
• Ampola syndrome
• Acrofacial dysostosis Catania form
• Acromelic frontonasal dysplasia
• Hypodontia, X-linked
• ADULT syndrome
• Hypercementosis
• Acrofacial dysostosis, Palagonia type
• Thanatophoric dysplasia
• Klinefelter syndrome variant
• Buttiens-Fryns syndrome
• Brachytelephalangy, characteristic facies, Kallmann
• BOR-Duane hydrocephalus contiguous gene syndrome
• Bagatelle-Cassidy syndrome
• Clark-Baraitser syndrome
• Beemer-Ertbruggen syndrome
• Avasthey syndrome
• Behrens-Baumann-Dust syndrome
• Baker-Vinters syndrome
• De Grouchy Syndrome
• Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
• Circumscribed cutaneous aplasia of the vertex
• Bork-Stender-Schmidt syndrome
• Bazopoulou-Kyrkanidou syndrome
• Bonneman-Meinecke-Reich syndrome
• Dwarfism -- bluish sclerae
• BOD syndrome
• CAHMR syndrome
• Battaglia Neri syndrome
• Grand-Kaine-Fulling syndrome
• Barber-Say syndrome
• Brachycephalofrontonasal dysplasia
• Boudhina-Yedes-Khiari syndrome
• Baraitser-Rodeck-Garner syndrome
• Carnevale-Krajewska-Fischetto syndrome
• Chitty Hall Baraitser syndrome
• Dwarfism -- stiff joint -- ocular abnormalities
• Bixler-Christian-Gorlin syndrome
• Ben-Ari-Shuper-Mimouni syndrome
• Chitayat Meunier Hodgkinson syndrome
• Cerebro-oculo-dento-auriculo-skeletal syndrome
• Baraitser Brett Piesowicz syndrome
• Game-Friedman-Paradice syndrome
• Rommen-Mueller-Sybert syndrome
• PHACE association
• Gurrieri-Sammito-Bellussi syndrome
• Cryptomicrotia -- brachydactyly syndrome
• Thin ribs -- tubular bones -- dysmorphism
• Oculodentoosseous dysplasia recessive
• Craniotelencephalic dysplasia
• Microcoria, congenital
• Maroteaux-Stanescu-Cousin syndrome
• Cranioacrofacial syndrome
• Konigsmark-Knox-Hussels syndrome
• Kurczynski-Casperson syndrome
• Le Marec-Bracq-Picaud syndrome
• Opitz-Reynolds-Fitzgerald syndrome
• Faciocardiorenal syndrome
• Toriello syndrome
• Jeune-Tommasi syndrome
• Gillum-Anderson syndrome
• Criswick-Schepens syndrome
• Nasodigitoacoustic syndrome
• Stimmler syndrome
• Osteopathia striata, cranial sclerosis
• Tuffli-Laxova syndrome
• Smith-Lemli-Opitz syndrome, type 2
• Seemanova-Lesny syndrome
• Synovitis granulomatous with uveitis and cranial neuropathies, familial
• Gomez and Lopez-Hernandez syndrome
• Alopecia, epilepsy, oligophrenia syndrome of Moynahan
• Ichthyosis-cheek-eyebrow syndrome
• Reese-Ellsworth syndrome
• Ramos-ArroyoClark syndrome
• Westphal-Piltz pupil
• AREDYLD
• Acrofacial dysostosis, Weyers type
• Sheffield syndrome
• Mende syndrome
• De Lange 1
• Paine syndrome
• Chandler's syndrome
• Acrorenal mandibular syndrome
• Kraemer syndrome
• Ascher's Syndrome
• Crome syndrome
• Marsden syndrome
• Oliver-McFarlane syndrome
• Ramon Syndrome
• Acromegaloid changes, cutis verticis gyrata and corneal leukoma
• Spira syndrome
• Odontohypophosphatasia
• Delleman-Oorthuys syndrome
• Keratomalacia
• Ziprkowski-Margolis syndrome
• Hyperostosis frontalis interna
• Fothergill disease
• AChR deficiency and short channel open time
• Patterson pseudoleprechaunism syndrome
• Ectodermal dysplasia
• Cranioectodermal dysplasia
• Ectodermal dysplasia anhidrotic
• Meige syndrome
• Craniodiaphyseal dysplasia
• Ruvalcaba syndrome
• Fronto-facio-nasal dysplasia
• W syndrome
• Sabouraud syndrome
• Juberg-Hayward syndrome
• Olmsted syndrome
• Brown syndrome
• Pelizaeus-Merzbacher brain sclerosis
• Maxillonasal dysplasia, Binder type
• Maxillofacial dysostosis
• Whole-body acute irradiation -- cerebral syndrome
• Scott syndrome
• Roberts syndrome
• Lowe oculocerebrorenal syndrome
• Lasseur-Graham-Little syndrome
• Strudwick syndrome
• Ramsay Hunt Syndrome type I
• Rubinstein-Taybi like syndrome
• Summitt syndrome
• Devic disease
• Absence of septum pellucidum and septo-optic dysplasia
• Epitheliopathy, acute posterior multifocal placoid
• Ventruto Digirolamo Festa syndrome
• Winter Shortland Temple syndrome
• Zori Stalker Williams syndrome
• Yim Ebbin syndrome
• XK aprosencephaly
• Wiedemann Grosse Dibbern syndrome
• Verloes-David Syndrome
• Witkop syndrome
• Willems De vries syndrome
• Viljone Kallis Voges syndrome
• Zazam Sheriff Phillips syndrome
• Xanthogranulomatous sialdenitis
• Von voss Cherstvoy syndrome
• Zadik Barak Levin syndrome
• Waaler Aarskog syndrome
• Webster Deming syndrome
• White sponge naevus of cannon
• Winter Harding Hyde syndrome
• Wisconsin syndrome
• Walker Dyson syndrome
• Zlotogora syndrome
• Wolf-Hirschorn syndrome
• Weaver Johnson syndrome
• Warburg Sjo Fledelius syndrome
• Warman Mulliken Hayward syndrome
• Wittwer sydnrome
• Zerres Rietschel Majewski syndrome
• Winship Viljoen Leary syndrome
• Schneckenbecken dysplasia
• Dermatoosteolysis, Kirghizian type
• Achard syndrome
• Elejalde syndrome
• Midline lethal granuloma
• Boomerang dysplasia
• Ackerman syndrome
• Beemer-Langer syndrome
• Crane-Heise syndrome
• Oculomelic amyoplasia
• Bird-headed dwarfism, Montreal type
• Bencze syndrome
• GAPO syndrome
• Microcephaly, holoprosencephaly, and intrauterine growth retardation
• Knobloch syndrome
• Rapadilino syndrome
• Ivic Syndrome
• Lundberg II syndrome
• Pseudoinflammatory fundus dystrophy
• Pashayan syndrome
• Meretoja syndrome
• Pfeiffer-Palm-Teller syndrome
• Sabinas brittle hair syndrome
• Silverman-Handmaker syndrome
• King-Denborough syndrome
• Sugarman II syndrome
• Pillay syndrome
• Thanos syndrome
• Osteoglophonic dwarfism
• Foix-Chavany-Marie syndrome
• Opsismodysplasia
• Oliver syndrome
• Tunbridge-Paley syndrome
• O'Donnell-Pappas syndrome
• Sponastrime dysplasia
• Martsolf syndrome
• Chavany-Brunhes syndrome
• Senter syndrome
• Costello syndrome
• Anton's syndrome
• Frontometaphyseal dysplasia
• Krause-Kivlin syndrome
• Cervicooculoacoustic syndrome
• Clouston syndrome
• Amyoplasia congenital disruptive sequence
• Craniometaphyseal dysplasia dominant type
• Oromandibular-limb hypogenesis spectrum
• Yunis Varon syndrome
• Lenz Majewski hyperostotic dwarfism
• Focal dermal hypoplasia
• Femoral facial syndrome
• Craniometaphyseal dysplasia, autosomal recessive type
• EEC syndrome
• Fibrochondrogenesis
• Hecht syndrome
• Geleophysic dwarfism
• Limb-body wall complex
• TDO type II
• Blepharophimosis, ptosis, epicanthus inversus
• Kniest dysplasia
• Melnick-Fraser syndrome
• Rapp-Hodgkin syndrome
• Ablepharon macrostomia syndrome
• Oculodentodigital syndrome
• Spherophakia brachymorphia syndrome
• Van der Woude syndrome
• Acrofacial dysostosis, Nager type
• Encephalo cranio cutaneous lipomatosis
• Klinefelter syndrome, variants
• Hydrolethalus syndrome
• Silver-Russell dwarfism
• I cell disease
• Craniosynostosis radial aplasia syndrome
• Van der Woude syndrome 2
• Van Maldergem Wetzburger Verloes syndrome
• Uncombable hair syndrome
• Upton Young syndrome
• Urioste Martinez-Frias syndrome
• Uveal diseases
• Van Regemorter Pierquin Vamos syndrome
• Urofacial syndrome
• Van den Bosch syndrome
• Van Allen Myhre syndrome
• Ventricular extrasystoles perodactyly Robin sequence
• Ulerythema ophryogenesis
• Beare-Stevenson cutis gyrata syndrome
• Bobble-head doll syndrome
• Mikulicz's Disease
• Cogan-Reese syndrome
• Wieacker syndrome
• Sakati syndrome
• Pseudophosphatasia
• Cayler syndrome
• Muenke Syndrome
• Haim-Munk syndrome
• Frontonasal dysplasia
• Leber miliary aneurysm
• Corpus callosum agenesis
• Oculo-dento-digital dysplasia dominant
• Marcus-Gunn phenomenon
• Maternally Inherited Leigh Syndrome
• Acro-reno-ocular syndrome
• Pelizaeus-Merzbacher disease, adult onset
• Mikulicz syndrome
• more types...»

What causes Head Conditions?

Causes of Head Conditions: see causes of Head Conditions

What are the symptoms of Head Conditions?

Symptoms of Head Conditions: see symptoms of Head Conditions

Head Conditions: Testing

Misdiagnosis: see misdiagnosis and Head Conditions.

How is it treated?

Doctors and Medical Specialists for Head Conditions: Neurologist ; see also doctors and medical specialists for Head Conditions.
Treatments for Head Conditions: see treatments for Head Conditions
Research for Head Conditions: see research for Head Conditions

Organs Affected by Head Conditions:

Organs and body systems related to Head Conditions include:

• Head

Name and Aliases of Head Conditions

Main name of condition: Head Conditions

Head Conditions: Related Conditions

Research the causes of these diseases that are similar to, or related to, Head Conditions:

• Meningitis
• Temporal arteritis
• Migraine
• Tension headache
• Scalp disorders
• Seborrheis dermatitis
• Encephalitis
• Brain tumours
• Dermoid cyst
• Sebaceous cyst

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