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Glossary for Jequier-Deonna Syndrome

  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
  • Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
  • Acoustic Neurinoma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Acoustic neuroma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma: Sudden hearing loss caused by such things as very loud noise (such as an explosion) or surgery.
  • Aging: The medical conditions from getting older.
  • Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
  • Alzheimer's Disease: Dementia-causing brain disease mostly in seniors and the elderly.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Arthrogryposis-like hand anomaly -- sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Autism: Childhood mental condition with social and communication difficulties.
  • Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
  • BOR syndrome: A rare genetic disorder characterized by hearing loss, kidney malformations and branchial arch anomalies. There are two subtypes with different genetic defect origins.
  • BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
  • Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
  • Barotitis Media: Middle ear injury due to eustachian tube blockage
  • Barotrauma: Damage to the lungs, ear or sinuses caused by rapid or extreme changes in air pressure.
  • Benign Paroxysmal Positional Vertigo: A condition where certain head movements cause extreme dizziness.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Boudhina-Yedes-Khiari syndrome: A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions.
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Brachydactyly -- dwarfism -- mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
  • Branchio-Oto-Renal Syndrome: Autosomal dominant genetic disorder involving kidneys, ears and neck.
  • Branchio-oto-renal (BOR) syndrome, type 2: A rare genetic disorder characterized by abnormal kidney development and varying degrees of hearing impairment. Type 2 involves a defect on the SIX5 gene on chromosome 19q13.3.
  • Branchiootic syndrome 2: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 2 is caused by a defect chromosome 1q31. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
  • Branchiootic syndrome 3: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 3 is caused by a defect chromosome 14q23. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
  • CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
  • Chemical poisoning -- Bromates: Bromate is a chemical used mainly in perming solution neutralizers and in small amounts as a bread preservative. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Cholesteatoma: Uncommon middle ear condition
  • Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
  • Chromosome 1, monosomy 1p22 p13: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.
  • Chromosome 11, Partial Monosomy 11q: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Chromosome 17 trisomy mosaicism: A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms.
  • Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient.
  • Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
  • Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
  • Colobomatous microphthalmia -- heart disease -- hearing loss: A very rare syndrome characterized by small eyes, heart disease and hearing loss.
  • Communication disorders: Various disorders limiting the ability to communicate (including developmental communication disorders)
  • Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
  • Congenital cytomegalovirus: Fetal infection with cytomegalovirus.
  • Coordination and balance conditions: Medical disorders of the systems of balance and coordination.
  • Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
  • Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally
  • Cytomegalovirus -- Teratogenic Agent: There is strong evidence to indicate that the development of Cytomegalovirus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
  • DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • DOC 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
  • Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
  • Deafness hypogonadism syndrome: A rare condition characterized by the combination of hypogonadism and deafness.
  • Deafness mixed with perilymphatic Gusher, X-linked: An inherited inner ear defect (stapes fixation) which causes progressive hearing loss. Perilymphatic gusher is a complication that can be associated with surgery to correct the inner ear defect. The severity and rate of progression of the hearing loss is variable. The hearing loss may be mixed or sensorineural.
  • Deafness, Conductive with Stapes Fixation: An inherited inner ear defect (stapes fixation) which causes progressive hearing loss. A perilymphatic gusher can occur as a complication of surgery to correct the inner ear defect. The severity and rate of progression of the hearing loss is variable.
  • Deafness, X-Linked 2: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 2 is linked to a defect on chromosome Xq21.1.
  • Deafness, X-Linked 3: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 3 is linked to a defect on chromosome Xp21.2.
  • Deafness, autosomal recessive 72: Recessively inherited hearing loss involving a defect on chromosome 19p13.3.
  • Deafness, genetic, nonsyndromic: An inherited form of deafness that is not associated with any other abnormalities. The degree of hearing loss can vary depending on the origin of the genetic defect.
  • Del (2) (p25.1-p24.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
  • Dentinogenesis imperfecta -- short stature -- hearing loss -- mental retardation: A rare syndrome characterized by teeth anomalies (dentinogenesis imperfecta), short stature, hearing loss and mental retardation.
  • Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Diffuse leiomyomatosis with Alport syndrome: A very rare syndrome characterized mainly by multiple tumors (in the esophagus, female genitals, trachea and bronchus) and Alport syndrome which involves progressive kidney dysfunction.
  • Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
  • Duane-radial ray syndrome: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet.
  • Ear and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
  • Ear wax: Buildup of wax (cerumen) inside the ear canal
  • Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
  • Epstein (C.J.) syndrome: A rare condition characterized by deafness, kidney inflammation, a reduced number of normal blood platelets needed for clotting and the presence of large blood platelets.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Fabry's Disease: Genetic fat storage disorder
  • Familial isolated deficiency of vitamin E: A rare neurodegenerative disorder caused by an inherited condition where the body is unable to absorb vitamin E from the food consumed.
  • Fetal methylmercury syndrome: Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta.
  • Fungal meningitis: Fungal meningitis is an infection that causes swelling and irritation of the tissue around the brain and spinal cord. It usually strikes people whose weakened immune systems can't fight off infection. The disease is not common. but it can be very serious.
  • GM2-gangliosidosis, AB variant: A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed.
  • Glue ear: Fluid accumulation in the middle ear
  • Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
  • Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
  • Hearing Impairment: Reduced ability to hear sounds.
  • Hearing loss: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Hereditary hearing loss: Hearing loss that is inherited or passed on from parents to children as a result of a genetic defect.
  • Herpes zoster oticus: Facial and auditory effects of herpes zoster
  • Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
  • Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
  • Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
  • Hyperacusis: Excessive sensitivity to everyday sounds.
  • Hypobetalipoproteinaemia -- ataxia -- hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
  • Ichythosiform Erythroderma with Leukocyte Vacuolation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
  • Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Juvenile Paget's Disease:
  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • Klippel Feil deformity conductive deafness absent vagina: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
  • LADD Syndrome: A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
  • Labrynthitis: Inner ear condition affecting various ear structures
  • Lacrimoauriculodentodigital syndrome: A rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
  • Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
  • Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
  • MPS-IV (Morquio Disease): A condition which is characterized by biochemically distinct mucopolysaccharidosis
  • MURCS Association: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Mandibuloacral dysplasia: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the extremities. The severity of the symptoms is variable.
  • Mandibuloacral dysplasia with type A lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.
  • Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive: A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities.
  • May-White syndrome: A rare inherited disorder characterized by involuntary muscle twitching, balance and coordination problems (cerebellar ataxia) and hearing loss.
  • Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2): A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Melnick-Fraser syndrome: A rare genetic disorder characterized by hearing loss and kidney malformations. Type 1 involves a defect on the EYA1 gene on chromosome 8q13.3.
  • Meningococcal disease: Dangerous bacterial infection causing meningitis or bacteremia.
  • Mental mixed retardation -- deafness -- clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
  • Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
  • Mercury poisoning: A type of heavy metal poisoning caused by excessive exposure to mercury.
  • Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance: A rare syndrome characterized by the association of a small head, retarded growth, cataracts, hearing loss and an unusual facial appearance. It was reported in a brother and sister.
  • Middle ear infection: Infection of middle ear also called otitis media.
  • Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
  • Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Mondini Dysplasia: A rare disorder where a part of the ear (cochlea) fails to develop completely causing hearing loss. The hearing loss may be gradual or sudden and the severity may be vary from normal hearing to complete hearing loss. Hearing loss may start in childhood or early adulthood.
  • Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
  • Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
  • Mucopolysaccharidosis type 2 Hunter syndrome- mild form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
  • Mucopolysaccharidosis type 2 Hunter syndrome- severe form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
  • Mullerian Aplasia -- Renal Aplasia -- Cervicothoracic Somite Dysplasia: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Multiple Sulfatase Deficiency: A condition characterized by multiple sulfatase deficiencies
  • Multiple carboxylase deficiency, propionic acidemia: A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor.
  • Muscle symptoms: Symptoms affecting the muscles of the body
  • Myoclonus with epilepsy with ragged red fibers: A rare disorder of mitochondrial metabolism characterized by myoclonic epilepsy and ragged-red muscle fibers. Mitochondria are the part of the body cells that produce energy.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
  • Neuropathy -- ataxia -- retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
  • Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
  • Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies.
  • Noise-Induced Hearing Loss: Hearing loss from loud noise exposure.
  • Optic atrophy: Dysfunction of the optic nerve which results in impaired vision. The disorder may be congenital or acquired. The rate and degree of atrophy is greatly variable depending on the cause.
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  • Osteogenesis imperfecta type IV: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility.
  • Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
  • Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
  • Osteopetrosis autosomal dominant type 1: A very rare dominantly inherited syndrome characterized mainly by increased bone density. The increased bone density results because old bone is not resorbed and replaced with new bone. Only 33 cases in 3 families have been reported. In type I, the increased bone density occurs throughout the body with the skull being the most affected. There is no associated increase in risk of fractures. Many cases are asymptomatic.
  • Osteopetrosis autosomal dominant type 2: A very rare dominantly inherited syndrome characterized mainly by increased bone density that affects mostly the spine, pelvis and base of the skull. The increased bone density results because old bone is not resorbed and replaced with new bone.
  • Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
  • Paget's disease, type 1: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.
  • Paget's disease, type 4: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 5q31.
  • Paraganglioma: A rare, usually benign tumor most often found in the abdomen, chest, head and neck areas. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow. Symptoms may vary depending on the exact location of the tumor.
  • Pfeiffer Syndrome Type I: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
  • Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract: A very rare, recessively inherited condition characterized by the association of vision, hearing and neurological problems. The condition generally starts during the second decade of life and progresses slowly.
  • Presbycusis: Progressive deterioration of hearing ability that affects both ears and occurs with aging. The hearing loss is sensorineural in nature and is most noticeable at high frequencies. There are a number of risk factors associated with age-related hearing impairment: smoking, ototoxic medication, cardiovascular disease and exposure to loud noise. It is estimated that a third of people over the age of 60 have some hearing loss and more than half of people over the age of 75 years have hearing loss.
  • Progressive hearing loss stapes fixation: A rare condition characterized by hearing loss, fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable) and reduced vestibular response.
  • Ptosis -- coloboma -- trigonocephaly: A very rare syndrome characterized mainly by droopy eyelids, coloboma and triogoncephaly as well as other variable features.
  • Renal tubulopathy -- diabetes mellitus -- cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
  • Richards-Rundle syndrome: A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.
  • Robinow Syndrome: An extremely rare genetic disorder characterized by dwarfism and facial abnormalities
  • Rocky Mountain spotted fever: A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases.
  • Rosenberg-Chutorian Syndrome: A very rare disorder involving eye, ear and nerve disorders.
  • Rowley syndrome: An inherited syndrome involving the association of hearing loss with branchial fistula.
  • SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
  • Sanfilippo syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called heparin sulfatase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
  • Sanfilippo syndrome type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in various tissues.
  • Schaefer-Stein-Oshman syndrome: A rare disorder where excessive growth and abnormal hardening affects the head and facial bones.
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
  • Sensory conditions: Medical conditions affecting the sensory system, especially the sense of touch.
  • Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
  • Spinocerebellar ataxia, autosomal recessive 3: A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing.
  • Steinfeld syndrome: A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect.
  • Streptomycin -- Teratogenic Agent: There is evidence to indicate that exposure to Streptomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
  • Superficial siderosis of the central nervous system: A rare disorder where hemosiderin (free iron) is deposited in parts of the central nervous system (brain and spinal cord tissue). It is often caused by repeated periods of bleeding in the brain (subarachnoid space).
  • TORCH Syndrome: Infection of a fetus by any of a group of infectious agents which have been transmitted from the mother through the placenta. The infections include toxoplasmosis, rubella, cytomegalovirus, herpes virus, hepatitis and syphilis. The severity and nature of symptoms is determined by the type of infection.
  • Thies Reis syndrome: A rare condition characterized by hearing loss caused by fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable). It can occur as a result of various bone diseases or even chronic ear infections.
  • Triglyceride storage disease with impaired long-chain fatty acid oxidation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
  • Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Upper limb defect eye and ear abnormalities: A rare disorder characterized by underdeveloped thumb and ear, deafness and an eye defect.
  • Vestibulocochlear dysfunction progressive familial: A condition which is characterised by vestibulocochlear dysfunction that occurs in a familial pattern
  • Waardenburg Syndromes: A syndrome which is characterized by displacement of the medial canthi and lacrimal puncta, a broad nasal bridge, iris conditions.
  • Waardenburg syndrome: A rare genetic disorder with a large variation in range and severity of symptoms but generally involves hearing loss, characteristic facial abnormalities and changes in skin, hair and eye pigmentation.
  • Waardenburg syndrome type 2: A hereditary, autosomal dominant disorder.
  • Waardenburg syndrome type 2A: A hereditary, autosomal dominant disorder.
  • Waardenburg syndrome type 2B: A hereditary, autosomal dominant disorder.
  • Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
  • Waardenburg syndrome, type 4: A rare inherited eye disorder characterized by loss of central vision as well as symptoms of Hirschsprung disease which is an intestinal disorder that prevents waste material from moving effectively through the digestive system.
  • Waardenburg type 1: A hereditary, autosomal dominant disorder.
  • Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
  • Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
  • Wildervanck syndrome 3: An inherited syndrome characterized by a hole in the skin near the ears, malformed ears and hearing loss.
  • Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
  • Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Wright dick syndrome: A rare, dominantly inherited syndrome characterized mainly by sensory nerve impairment and dementia.
  • Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.
  • Yemenite deaf-blind hypopigmentation syndrome: A condition which is characterised by the association of several symptoms which affect ones hearing and vision
  • Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.
  • Zunich-Kaye syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

 

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