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Symptoms » Droopy eye-lid » Glossary
 

Glossary for Droopy eye-lid

Medical terms related to Droopy eye-lid or mentioned in this section include:

  • 14qter deletion Syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • 2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 46,XY chromosome 7 deletion p13-p21: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acute Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute VE: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Acute Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
  • Adrenal gland symptoms: Symptoms affecting the adrenal glands
  • Adrenal insufficiency: A condition where the adrenal gland produces insufficient cortical hormones.
  • Allergic reaction: A hypersensitivity reaction produced by the body, which results in an exaggerated or inappropriate immune reaction to a particular substance.
  • Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Aneurysm, intracranial berry: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms.
  • Aneurysm, intracranial berry, 1: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 1 is caused by a defect on chromosome 7q11.2.
  • Aneurysm, intracranial berry, 10: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 10 is caused by a defect on chromosome 8q12.1.
  • Aneurysm, intracranial berry, 2: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 2 is caused by a defect on chromosome 19q13.
  • Aneurysm, intracranial berry, 3: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 3 is caused by a defect on chromosome 1p36.13-p34.3.
  • Aneurysm, intracranial berry, 4: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 4 is caused by a defect on chromosome 5p15.2-14.3.
  • Aneurysm, intracranial berry, 5: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 5 is caused by a defect on chromosome 2p13.
  • Aneurysm, intracranial berry, 6: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases an individuals risk for developing intracranial berry aneurysms. Type 6 is caused by a defect on chromosome 9p21.
  • Aneurysm, intracranial berry, 7: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 7 is caused by a defect on chromosome 11q24-q25.
  • Aneurysm, intracranial berry, 8: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 8 is caused by a defect on chromosome 14q23.
  • Aneurysm, intracranial berry, 9: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 9 is caused by a defect on chromosome 2q33.1.
  • Aniridia -- absent patella: A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye.
  • Aniridia -- ptosis -- mental retardation -- obesity, familial: A rare familial disorder characterized by eye abnormalities, mental retardation and obesity.
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Arthrogryposis -- epileptic seizures -- migrational brain disorder: A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities. It can be caused by fetal exposure to alcohol or chemical products.
  • Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
  • Arthrogryposis -- spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
  • Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
  • Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
  • Ascher syndrome: A rare syndrome characterized by the association of droopy eyelids, double lip and goiter.
  • Axenfeld-Schürenberg syndrome: A congenital disorder where paralysis of the third cranial nerve controlling eye movement results in periods of eye paralysis alternating with periods of eye spasms.
  • Babinski-Nageotte syndrome: A rare disorder caused by damage to a part of the brain (medullobulbar transitional area) which causes a variety of neurological symptoms, some of which affect only one side of the body.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Basilar artery insufficiency syndrome: A range of symptoms caused by impaired blood flow through the basilar artery. The symptoms may come and go according to variation in blood flow through the basilar artery. The blood flow may be impaired by such things as thrombosis, narrowed artery and blood vessel spasms. Symptoms vary depending on the exact location and extent of the artery involvement as well as whether the onset is gradual or sudden.
  • Bell's Palsy: A one sided muscle paralysis of sudden onset due to a problem with the facial nerve
  • Bell's palsy: A one sided muscle paralysis of sudden onset due to a problem with the facial nerve
  • Bird-headed dwarfism, Montreal type: A rare condition characterized by dwarfism and a characteristic beak-shaped nose.
  • Black widow spider envenomation: The black widow spider bite is toxic to the nerves and can cause serious symptoms. The black widow spider is most commonly found in North America.
  • Blepharo facio skeletal syndrome: A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
  • Blepharochalasis syndrome: An inflammatory, degenerative disease of the eyelid. The disease goes through periods of remission and involves rapid swelling of the eyelids. The eyelid is stretched and becomes thin and wasted over time. There is no discernable cause.
  • Blepharophimosis -- nasal groove -- growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis -- nasal groove -- growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis -- ptosis -- esotropia -- syndactyly -- short stature: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
  • Blepharophimosis -- ptosis -- syndactyly -- mental retardation: A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
  • Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
  • Blepharophimosis syndrome Ohdo type: An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
  • Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
  • Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
  • Botulism food poisoning: Extremely dangerous food poisoning requiring medical attention, but not always recognized because of its non-abdominal symptoms.
  • Brachio-Skeletal-Genital Syndrome: A very rare syndrome described in three siblings of related parents. The offspring had skull, skeletal and genital abnormalities.
  • Brain cancer: Cancer of the brain.
  • Brain symptoms: Symptoms affecting the brain
  • Brain tumor: A condition which is characterized by the abnormal growth of tissue within the brain
  • Brainstem glioma: tumour of the brain
  • Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
  • Brown snake poisoning: The Brown snake is a poisonous Australian snake. They are considered one of the most venomous snakes in the world and their bite can result in death without prompt medical attention. The snake venom contains toxins which affect the blood and nerve systems. Children tend to suffer more severe symptoms due to their smaller body size.
  • Brown syndrome: A rare eye disorder characterized by inability to move the affected eye upwards due to an abnormality in the muscle that controls the eye movement. The condition may be congenital or result from an underlying condition or an injury.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • Camptodactyly -- joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Cataract -- aberrant oral frenula -- growth delay: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
  • Cerebral Aneurysm: Dangerous swelling of a brain blood vessel that may rupture.
  • Cerebro oculo genital syndrome: A very rare syndrome characterized mainly by brain, eye and genital abnormalities.
  • Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
  • Charcot-Marie-Tooth disease with ptosis and parkinsonism: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.
  • Chemical poisoning -- Phencyclidine: Phencyclidine is often used as an illegal recreational drug. 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.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
  • Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
  • Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14q terminal deletion syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • Chromosome 14q, proximal duplication: A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.
  • Chromosome 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
  • Chromosome 14qter deletion: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18, Monosomy 18p: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 18p minus syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome18 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
  • Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
  • Chromosome 2p16.1-p15 Deletion Syndrome: A rare genetic disorder characterized by a range of manifestations including mental retardation and skull and facial anomalies.
  • Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
  • Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
  • Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
  • Chromosome 3, monosomy 3q21-23: A very rare chromosomal disorder involving the deletion of a part of the long arm of chromosome 3 which results mainly in eye abnormalities.
  • Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4, trisomy 4q25 qter: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4.
  • Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
  • Chromosome 6p partial duplication: A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material.
  • Chromosome 7 deletion p21-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Cluster headache: Also known as alarm headache, more common in young men, presents with unilateral headache, rhinorrhea and lacrimation
  • Cobra poisoning: The Cobra is a poisonous snake which can be found in Africa, Asia and other parts of the world. Some cobras are able to spit venom into the victims eye and cause serious symptoms.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
  • Congenital Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which usually results from autoimmune dysfunction. Congenital myasthenia gravis however results from a genetic defect. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
  • Congenital heart disease, ptosis, hypodontia, craniosynostosis: A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones.
  • Congenital myasthenic syndromes: A group of genetic condition characterized by abnormal neuromuscular signals. Symptoms tend to become worse with exertion.
  • Coral snake poisoning: The Coral snake is a usually brightly colored, poisonous snake found mainly in America and Africa. The toxicity amongst species is variable. They are considered a shy snake and bites are usually the result of deliberate handling. Coral snakes have to bite for long enough to release the toxin through the fangs so envenomation tends to be rarer than for other snakes who can strike and envenomate rapidly. The snake venom contains toxins which mainly affect the nerve systems. Children tend to suffer more severe symptoms due to their smaller body size.
  • Cornel syndrome: A very rare disorder observed in only a few families. The condition is characterized by deafness, heart problems and droopy eyelids
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
  • Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
  • Deafness conductive -- ptosis -- skeletal anomalies: A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities.
  • Del (2) (p25.1-p23.3): A rare chromosomal disorder characterized by variable abnormalities which makes the condition poorly defined. Observations were made on two reported cases.
  • Del (2) (q23-q34) mosaicism: 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 (2) (q32.3-q34): 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 (3) (p14.2-p11): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (p21.1-p13): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (pter-25): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in 22 reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (pter-p25) and dup (2) (pter-p25.3): 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 (3) (pter-p25) mosaicism: 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 (3) (q11-q21): 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 (3) (q12-q23): 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 (3) (q21-q23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q21.3-q22.3): 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 (3) (q22.2-q23): 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 (4) (pter-p16.2) and dup (2) (q37.1-qter): A rare syndrome characterized by the main features of Wolf syndrome which include profound mental retaradation and oral clefting. Patients tend to die soon after birth.
  • Delayed speech -- facial asymmetry -- strabismus -- ear lobe creases: A very rare syndrome characterized mainly by speech delay, crease in the ear lobe, asymmetrical face and cross-eyed.
  • Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
  • Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • Dermo-odontodysplasia: A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities.
  • Developmental problems: Physical or mental development difficulty.
  • Diabetes: Symptoms similar to those of diabetes
  • Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
  • Diabetes-like symptoms: Symptoms similar to those of diabetes
  • Dopamine beta hydroxylase deficiency: A very rare disorder involving a deficiency of dopamine beta-hydroxylase which affects production of noradrenaline and adrenaline and results in symptoms such as low blood pressure on standing, droopy eyelids and stuffy nose.
  • Double Upper and Lower Lip -- Hypertelorism -- Ptosis -- Blepharophimosis -- clinodactyly: A very rare syndrome characterized y double lip involving the upper and lower lip, wide set eyes, droopy eyelids, blepharophimosis and abnormally curved fifth fingers.
  • Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
  • Dup (1) (q32-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the short arm of chromosome 3 (pter-p25) is deleted.
  • Dup (1) (q42-qter) & del (18p): A rare chromosomal disorder which manifests as various physical and mental abnormalities. Patients tend to die within the first couple of decades but the condition is poorly defined.
  • Dup (2) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is duplicated. The type and severity of symptoms may vary.
  • Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Ectodermal dysplasia -- mental retardation -- CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
  • Ectodermal dysplasia -- mental retardation -- central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
  • Ectropion: Outward turning of the eyelid away from the eye.
  • Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Elapid poisoning: Sea snakes, Kraits and cobras are from the Elapid group of snakes. The toxicity of the venom varies depending on the species. The venom is usually toxic to the nerves or heart. Early symptoms such as drowsiness can occur within 30 minutes with more severe symptoms developing over the next few hours. Severe envenomation can result in death within hours.
  • 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.
  • Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
  • Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy: A rare syndrome involving fragile skin that blisters easily as well as muscle weakness and wasting in the head and limbs. The severity of the blistering and muscle weakness is variable with some sufferers dying during infancy.
  • Epiphyseal dysplasia -- hearing loss -- dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Erb-Goldflam: An inherited disorder characterized by a defect in the transmission of signals to the muscles which results in muscle weakness.
  • Eye cancer: A malignancy that affects the eye
  • Eye conditions: Any condition that affects the eyes
  • Eye symptoms: Symptoms affecting the eye
  • Eyebrows duplication of, with stretchable skin and syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes.
  • Eyebrows duplication syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, webbed fingers and toes and occasionally increased skin elasticity and other variable symptoms.
  • Eyelid lump: A palpable lesion located anatomically on the eyelid
  • Eyelid pain: Sore eyelid or pain affecting the eyelid
  • Eyelid paralysis: A loss of the motor and or sensory function of the eyelid due to either a muscular or neural mechanism
  • Eyelid swelling: A swelling located on the eyelid
  • Eyelid symptoms: Symptoms affecting the eyelid
  • Eyelid twitch: Involuntary twitching or blinking of the eyelids
  • FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
  • Face symptoms: Symptoms affecting the face
  • Facial dysmorphism -- shawl scrotum -- joint laxity syndrome: A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum.
  • Facial paralysis: Paralysis of one or both sides of the face
  • Faciocardiomelic Syndrome: A syndrome reported in a family and characterized by various anomalies including mental retardation and bone abnoramlities.
  • Fazio-Londe syndrome: A rare inherited motor neuron disease characterized by progressive muscle weakness which ultimately leads to premature death.
  • Fibrosis of extraocular muscles, congenital (FEOM): A group of rare congenital disorders of eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital with synergistic divergence: A rare congenital eye movement disorder involving droopy eyelids and limited eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital, 1: A rare congenital eye movement disorder involving droopy eyelids and limited eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital, 2: A rare congenital eye movement disorder involving droopy eyelids and limited eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital, 3: A rare congenital eye movement disorder involving droopy eyelids and limited eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital, 3A: A rare congenital disorder of eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). Type 3A has variable degrees of severity. Mild cases may have no evidence of eyelid drooping with an abnormal eye position and movement. The condition is not progressive.
  • Fibrosis of extraocular muscles, congenital, 3B: A rare congenital disorder of eye movement. The condition is caused by the dysfunction of the muscles that control eye movement or by the innervation of these muscles by the third cranial nerve (oculomotor nerve). The condition is not progressive.
  • Fitzsimmons-McLachlan-Gilbert syndrome: A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles.
  • Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
  • Frias syndrome: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
  • Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
  • Fryns-Aftimos syndrome: A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance.
  • Furlong-Kurczynski-Hennessy syndrome: A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue.
  • Generalized Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In generalized myasthenia gravis weakness develops mainly in the limbs and trunk. The severity of symptoms may vary amongst patients. Most patients suffer increased severity of symptoms during the day with improvement after sleeping.
  • Gillum-Anderson syndrome: A rare genetic condition characterized by dislocation of eye lens, nearsightedness and drooping upper eyelid.
  • Goldberg-Shprintzen megacolon syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
  • Gollop syndrome: A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities.
  • Growth deficiency brachydactyly unusual facies: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
  • Guillain-Barre Syndrome: An acute condition which is characterized by polyradiculoneuropathy that affects the peripheral nervous system
  • Guillain-Barre syndrome: An acute condition which is characterized by polyradiculoneuropathy that affects the peripheral nervous system
  • Head symptoms: Symptoms affecting the head or brain
  • Herbal Agent adverse reaction -- Licorice: Licorice can be used as a herbal agent in cough medications and as a food additive in chewing gum and chewing tobacco. The herbal agent contains a chemical called glycyrrhizic acid which can cause an adverse reaction in some people.
  • Herbal Agent overdose -- Cleistanthus Collinus: Cleistanthus collinus can be used as a herbal agent which is very toxic and has been used to commit suicide or murder. The herbal agent contains toxic chemicals such as dyphyllin, collinusin and glycosides.
  • Holoprosencephaly -- ectrodactyly -- cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
  • Horner Syndrome: Horner's syndrome is characterised by ptosis, meiosis, anhidrosis and loss of ciliospinal reflex.
  • Horner's syndrome: Horner's syndrome is characterised by ptosis, meiosis, anhidrosis and loss of ciliospinal reflex.
  • Hunter-Fraser syndrome: A rare inherited syndrome characterized mainly by mental retardation and facial and skeletal abnormalities.
  • 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-McAlpine syndrome: A very rare dominantly inherited syndrome characterized mainly by premature fusion of skull bones, mental retardation, small mouth, short stature and finger and toe anomalies.
  • Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
  • Hypotonia-cystinuria syndrome: A genetic disorder characterized by reduced muscle tone, growth hormone deficiency and unusual facial appearance. Failure to thrive occurs during the first years of life but is replaced by rapid weight gain in later childhood. This syndrome is a milder form of the 2p21 deletion syndrome.
  • Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
  • Intellectual deficit -- multiple anomalies: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • Itchy eyelid: Itching of the eyelid
  • Jones-Hersh-Yusk syndrome: A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth.
  • Jorgenson-Lenz syndrome: A very rare syndrome characterized mainly by joint problems, mental retardation and various eye and other anomalies.
  • Joubert Syndrome 1: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 1 is linked to a defect on chromosome 9q34.3.
  • Joubert Syndrome 2: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 2 is linked to a defect on chromosome 11p12-q13.3.
  • Joubert Syndrome 3: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 3 is linked to a defect on chromosome 6q23.3.
  • Joubert Syndrome 4: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 4 is linked to a defect on chromosome 2q13.
  • Joubert Syndrome 5: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 5 is linked to a defect on chromosome 12q21.3.
  • Joubert Syndrome 6: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 6 is linked to a defect on chromosome 8q21.13-q22.1.
  • Joubert Syndrome 7: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 7 is linked to a defect on chromosome 16q12.2.
  • Joubert Syndrome 8: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 8 is linked to a defect on chromosome 3q11.2.
  • Juvenile Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which results from autoimmune dysfunction. Juvenile myasthenia gravis also has autoimmune origins and tends to develop during childhood. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
  • Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
  • Katsantoni-Papadakou-Lagoyanni syndrome: A very rare syndrome characterized mainly by mental retardation and hair abnormalities.
  • Kaufman oculocerebrofacial syndrome: A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited.
  • King Cobra poisoning: The King Cobra is a large venomous snake usually found in southeast Asia and India. Most bites from this snake results in envenomation due to the ferocity of their bite. The poison primarily affects the neuromuscular system but can also affect blood clotting.
  • King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
  • Kozlowski-Brown-Hardwick syndrome: A very rare syndrome characterized mainly by various skeletal anomalies, unusual facial appearance, eye abnormalities and communicating hydrocephaly.
  • Lambert-Eaton Myasthenic Syndrome: A condition where a patient with a carcinoma suffers from progressive muscular weakness.
  • Lateral meningocele syndrome: A rare syndrome characterized mainly by lateral meningoceles (openings in the spinal cord on the inside of the spine) as well as craniofacial anomalies. The syndrome is believed to involve the abnormal development of the spinal cord, cerebellum and cerebral cortex.
  • Lenz Microphthalmia Syndrome: A condition which is characterized by an abnormally small eye
  • Levic-Stefanovic-Nikolic syndrome: A very rare inherited syndrome characterized mainly by mental retardation, ophthalmoplegia and a fissured tongue.
  • Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems.
  • Lymphedema -- ptosis: A very rare syndrome characterized mainly by lymphedema (lymphatic obstruction) in the legs and droopy eyelids.
  • Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
  • Macrostomia -- preauricular tags -- external ophthalmoplegia: A rare syndrome characterized mainly by a large mouth, skin tags in front of the ears and weak external eye muscles.
  • Malouf syndrome: A very rare syndrome characterized mainly by heart disease as well as abnormal ovaries.
  • Marcus-Gunn phenomenon: A congenital condition where the eyelids droop but rise up when the mouth is opened.
  • McDonough syndrome: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • McPherson-Robertson-Cammarano syndrome: A very rare inherited disorder characterized by droopy eyelids, strabismus and ectopic pupils.
  • Megarbane syndrome: A very rare disorder characterized by short stature, loose joints, hernias, facial abnormalities and severe psychomotor retardation.
  • Mehes syndrome: A very rare syndrome characterized mainly by delayed speech, an asymmetrical face, crossed eyes and ear lobe creases.
  • Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
  • Mental retardation -- myopathy -- short stature -- endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
  • Mental retardation -- short stature -- deafness -- genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
  • Mental retardation -- short stature -- microcephaly -- eye anomalies: A very rare syndrome characterized mainly by mental retardation, short stature, small head and eye abnormalities. It has only been reported in one family.
  • Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Mental retardation, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.
  • Mental retardation, Smith-Fineman-Myers type: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone.
  • Mesomelic dysplasia, Camera type: A rare inherited skeletal disorder characterized mainly by short forearm bones and a hip defect as well as some facial feature anomalies.
  • Microbrachycephaly -- ptosis -- cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
  • Microcephaly -- cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Microphthalmia, Lentz type: A condition which is characterized by an abnormally small eye as well as other variable symptoms.
  • Microphthalmia, syndromic 1: A condition which is characterized by an abnormally small eye as well as other variable symptoms.
  • Migraine: Severe complex headaches that occur periodically
  • Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
  • Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
  • Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
  • Mitochondrial encephalomyopathy -- aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
  • 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.
  • Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
  • Mohave Rattle snake poisoning: The Mohave rattle snake is a poisonous snake found mainly in Mexico and south-western areas of the US. The type of venom in Mohave snakes varies amongst species. Those with Type A venom tend to affect the nervous system whereas those with Type B venom primarily affect the blood and tissues. Type A tends to be more toxic than type B. Children tend to suffer more severe symptoms due to their smaller body size.
  • Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
  • Mouth symptoms: Symptoms of the mouth or oral area.
  • Mowat-Wilson syndrome: A very rare syndrome characterized mainly by mental retardation, a small head, characteristic facial appearance and various other abnormalities.
  • Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
  • Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Multiple pterygium syndrome, autosomal recessive: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Mungan syndrome: A recessively inherited disorder characterized by heart abnormalities and gastrointestinal abnormalities. Death has occurred in some cases during the late teenage years.
  • Muscle symptoms: Symptoms affecting the muscles of the body
  • Muscular dystrophy -- congenital infantile cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Muscular dystrophy, congenital, infantile with cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Musculoskeletal symptoms: Symptoms affecting muscles or bones of the skeleton.
  • Myasthenia Gravis: An autoimmune disorder which interferes with nerve impulses to muscles and hence results in weak, easily fatigued muscles.
  • Myasthenia Gravis with Thymus Hyperplasia: Myasthenia gravis is an autoimmune neuromuscular disease which is often associated with an abnormal thymus. The relationship between the thymus and myasthenia is not fully understood but as the thymus is involved in the body's immune system, it may trigger the immune system abnormality underlying some cases of myasthenia gravis.
  • Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors: A neuromuscular disease that is present from birth and is characterized by the inability to manage the condition by administering acetylcholinesterase inhibitors which is used to treat other myasthenias. This form of myasthenia results from a genetic defect whereas other forms of myasthenia generally result from an autoimmune process.
  • Myasthenia, Familial Infantile, 1: Illness, stress or fatigue may result in sudden severe episodes of apnea which can be fatal.
  • Myasthenia, familial: A familial form of myasthenia which is a muscle disease characterized by muscle weakness. The weakness is exacerbated by physical activity and improved by resting.
  • Myasthenia, familial limb-girdle: A rare genetic condition characterized by weakness of the chest and pelvic girdle muscles.
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
  • Myasthenic syndrome, congenital, slow-channel: A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells.
  • Myopathy, early-onset with fatal cardiomyopathy: A rare disorder involving muscle disease and early onset heart disease which leads to death.
  • Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
  • Nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia and severe mental retardation: A rare syndrome characterized sparse hair, underdeveloped nose and genitals, severe mental retardation and truncal obesity.
  • Native American myopathy: A rare genetic disorder characterized by muscle disease from birth, cleft palate and malignant hyperthermia.
  • Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
  • Nerve damage: Any damage which occurs to a nerve altering its structure or function
  • Nerve symptoms: Symptoms affecting the nerves
  • Neurofaciodigitorenal syndrome: A very rare syndrome characterized by brain problems, mental retardations, kidney and limb defects as well as a range of other physical abnormalities.
  • Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck).
  • Neurological symptoms: Any symptoms that are caused by neurological conditions
  • Night blindness -- skeletal anomalies -- unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
  • Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
  • Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
  • Ocular Muscular Dystrophy: A slow progressing paralysis of the muscles surrounding the eyes. Eventually the eyes are unable to move.
  • Ocular Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In ocular myasthenia gravis, only the eye muscles are affected. A significant number of patients with ocular myasthenia gravis go on to develop symptoms in other muscles.
  • Ocular weakness: Weakness of the ocular muscles.
  • Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
  • Oculopharyngeal Muscular Dystrophy: A group of genetic muscle-wasting diseases which affects mainly the eyes and throat. Weakness in limb and facial muscles can occur in later stages.
  • Ophtalmoplegia myalgia tubular aggregates: A very rare muscle disorder where accumulation of tubular bodies in muscle tissue causes progressive eye muscle weakness and muscle pain triggered by exercise.
  • Ophthalmoplegic Muscular dystrophy: A rare disorder characterized by progressive weakness and wasting of the muscles around the eyes. Swallowing muscles may eventually become involved as well.
  • Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
  • Opthalmoplegia -- mental retardation -- lingua scrotalis: A very rare syndrome characterized mainly by weak or paralyzed eye muscles, mental retardation and a fissured tongue.
  • Optic atrophy -- ophthalmoplegia -- ptosis -- deafness -- myopathy: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
  • Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
  • Orbital lymphangioma: A tumor that develops from lymph vessels around the eye.
  • Orbital lymphoma: A tumor that develops in the soft tissue of the eye socket and can push against the eye causing problems with vision and eye movement.
  • Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
  • Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
  • Pallister-Killian Syndrome: A rare genetic disorder due to tetrasomy of the 12th chromosome
  • Pancoast's syndrome: weakness and pain in the shoulder, arm and hand, caused by pressure on the nerves
  • Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
  • Pfeiffer-Hirschfelder-Rott syndrome: A very rare syndrome characterized by facial and kidney anomalies and a type of dwarfism where the farthest parts of the limbs suffer the greatest degree of shortness.
  • Phacomatosis pigmentokeratotica: A very rare syndrome characterized mainly by abnormally pigmented areas on the skin which is associated with neurological problems. The skin pigmentation spreads and generally occurs only on one side of the body.
  • Plant poisoning -- Amygdalin: Amygdalin is a chemical found naturally in various plants e.g. stone fruit kernels and raw almonds. Eating these parts of the plant that contain the chemical can cause symptoms of cyanide poisoning as the amygdalin is converted to cyanide by the digestive process. Obviously, the concentration of the chemical varies amongst species of plant and often, significant quantities are needed to produce symptoms. Nevertheless, severe poisoning can result in death. Amygdalin is believed by some to inhibit cancers but there has been no conclusive proof of this.
  • Plant poisoning -- Cyanogenic glycoside: Cyanogenic glycoside is a toxin found naturally in various plants e.g. cherries, plums, almonds, peaches, apricots, apples and cassava. The chemical is usually concentrated in the seeds, kernels or wilted leaves. Eating these parts of the plant that contain the chemical can cause symptoms of cyanide poisoning as the cyanogenic glycoside is converted to cyanide by the digestive process. Even chewing the leaves can result in conversion to cyanide due to the presence of digestive enzymes in the mouth. Obviously, the concentration of the chemical varies amongst species of plant and often, significant quantities are needed to produce symptoms. Nevertheless, severe poisoning can result in death.
  • Polyneuropathy -- Ophthalmoplegia -- Leukoencehalopathy -- Intestinal Pseudo-Obstruction: 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.
  • Polysyndactyly -- cardiac malformation: A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations.
  • Progressive external ophthalmoplegia: The progressive occurrence of weakness in the muscles that control eye movement
  • Prolidase deficiency: A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.
  • Proximal tubulopathy -- diabetes mellitus -- cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
  • Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
  • Pterygium colli -- mental retardation -- digital anomalies: A very rare syndrome characterized mainly by mental retardation, webbed neck and finger abnormalities.
  • Pterygium syndrome multiple dominant type: A very rare syndrome characterized by joint contractures, finger webbing, difficulty fully opening mouth and scoliosis.
  • Ptosis: ptosis is an abnormally low position (drooping) of the upper eyelid
  • Ptosis -- coloboma -- mental retardation: A very rare syndrome characterized mainly by droopy eyelids, coloboma and mental retardation.
  • Ptosis -- coloboma -- trigonocephaly: A very rare syndrome characterized mainly by droopy eyelids, coloboma and triogoncephaly as well as other variable features.
  • Ptosis -- strabismus -- ectopic pupils: A very rare syndrome characterized mainly by droopy eyelids, crossed eyes and ectopic pupil.
  • RHYNS syndrome: A rare syndrome characterized by eye, kidney and skeletal abnormalities as well as hypopituitarism.
  • 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.
  • Richieri Costa Guion-Almeida syndrome: A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies.
  • Ring D2 chromosome: A rare chromosomal disorder where a portion of chromosome 2 is deleted and the two ends rejoin to form a ring. The condition results in the absence of thumbs, mental and physical retardation, toe and head abnormalities and distinctive facial features.
  • Rollet syndrome: A rare disorder involving damage to a part of the eye orbit resulting in eye problems and skin sensation abnormalities involving the forehead, temples and top of the head.
  • SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
  • Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3: 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 p21.1p21.3.
  • Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
  • Sea snake poisoning: The Sea snake is a poisonous snake found in the warmer western parts of the Pacific and Indian Ocean. Sea snakes have scales but not gills or fins so they still need to go to the surface of the water to breathe. Sea snake venom is particularly poisonous but their bite fails to achieve any significant envenomation. The venom is toxic to the nervous system and muscles.
  • Seckel syndrome 3: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder with type 1 being the most severe.
  • Segawa syndrome, autosomal recessive: A very rare birth disorder characterized mainly by involuntary jerky movements that start during infancy. The disorder is caused by a genetic defect resulting in a deficiency of an enzyme called tyrosine hydroxylase. The disorder is usually treatable by administering low doses of L-DOPA medication.
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
  • Serpentine fibula -- polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
  • Short stature -- valvular heart disease: A very rare syndrome characterized mainly by short stature and heart valve disease.
  • Short stature valvular heart disease characteristic facies: A rare condition characterized by disproportionately short legs, droopy eyelids and heart valve lesions.
  • Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
  • Shprintzen-Goldberg syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
  • Skeletal dysplasia -- orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Smith-Fineman-Myers syndrome 1: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone. The genetic defect occurs on chromosome Xq13.
  • Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
  • Sparse hair -- ptosis -- mental retardation: A very rare syndrome characterized mainly by sparse hair, droopy eyelids and mental retardation.
  • Spinocerebellar ataxia 28: A rare genetic disorder (chromosome 18p11 defect) characterized by eye muscle paralysis (ophthalmoplegia) and increased reflexes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
  • Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
  • Superior orbital fissure syndrome: A neurological condition that can result from a fracture of the orbital fissure which is a cleft that lies behind the nose. The disorder that can also result from facial fractures, cavernous sinus infections or retrobulbar tumors or infections. Damage to the nerves that pass through the orbital fissure causes the symptoms.
  • Teebi-Shaltout syndrome: A very rare syndrome characterized by various facial and head abnormalities.
  • Tertiary syphilis: A condition which is characterized by late generalized syphilis with involvement of many organs and tissues
  • Thompson-Baraitser syndrome: A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
  • Tolosa-Hunt Syndrome: A rare disorder characterized by severe headaches and paralysis and weakness of eye muscles.
  • Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
  • Trichinosis: Worm infection usually caught from pigs
  • Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
  • Trigonocephaly -- broad thumbs: A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead.
  • Trigonocephaly -- ptosis -- coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
  • Trigonocephaly -- ptosis -- mental retardation: A very rare syndrome characterized mainly by droopy eyelids, mental retardation and a triangular shaped forehead.
  • Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • Trisomy 22 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Tucker syndrome: A rare syndrome characterized by vocal cord paralysis and droopy eyelids.
  • Tukel syndrome: A rare syndrome involving restricted eye movement and droopy eyelid and hand deformities affecting primarily the right eye and right hand.
  • Unusual facies, hepatic fibrosis, renal cysts and mental retardation: A rare syndrome characterized mainly by liver fibrosis, unusual facial appearance, kidney cysts and mental retardation.
  • Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty: A rare syndrome characterized mainly by an unusual facial appearance, mental retardation, short stature, hemolytic anemia and delayed puberty.
  • Van Bogaert-Hozay syndrome: A rare disorder characterized by destruction of ends of finger bones, mental retardation, skin wasting and eye and facial abnormalities.
  • Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
  • Vertebral fusion posterior lumbosacral blepharoptosis: A condition described as the congenital vertebral fusion of the posterior lumbosacrum
  • Vertebral fusion- posterior lumbrosacral, blepharoptosis:
  • Visceral myopathy familial external ophthalmoplegia: A very rare form of muscle wasting disease involving the eye and gastrointestinal muscles.
  • WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
  • Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
  • Wallenberg's Syndrome: A rare neurological condition caused by a stroke (involving the cerebellar artery) and resulting in symptoms such as facial paralysis or weakness on one side of body.
  • Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
  • Wellesley Carmen French syndrome: A syndrome characterised visual difficulties and growth retardation
  • Wellesley-Carman-French Syndrome: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
  • Wernicke-Korsakoff syndrome: A rare degenerative brain disorder caused by thiamine (Vitamin B1) deficiency. Chronic alcoholics are prone to this condition.
  • Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities
  • Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
  • Wolf-Hirschorn syndrome: A syndrome characterised by the partial deletion of the short arm of chromosome 4
  • Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
  • Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
  • Wyburn-Mason Syndrome: A condition which is characterized by arteriovenous aneurysms on one or both sides of the brain

Conditions listing medical symptoms: Droopy eye-lid:

The following list of conditions have 'Droopy eye-lid' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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Conditions listing medical complications: Droopy eye-lid:

The following list of medical conditions have 'Droopy eye-lid' or similar listed as a medical complication in our database.
Last revision: Nov 10, 2003

 

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