Alopecia, Neurologic Defects, and Endocrinopathy (ANE) syndrome, a very rare, recessive ribosomopathy caused by changes in the RBM28 gene. ANE syndrome is a ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Androgen Insensitivity Syndrome is a genetic condition in which the body’s cells do not respond normally to androgens (male-type sex hormones such as ...
Andersen–Tawil syndrome is a rare genetic condition that affects muscles and the heart. People with ATS usually have three kinds of problems: 1) sudden ...
Idiopathic brachial neuropathy (IBN) is a sudden, often severe nerve problem that affects the shoulder and upper arm. “Idiopathic” means we do not find a clear ...
Parsonage–Turner syndrome (PTS) — also called neuralgic amyotrophy or idiopathic brachial neuritis — is a sudden inflammation of nerves in the shoulder and ...
Amyotrophic neuralgia (neuralgic amyotrophy) is an acute inflammation or injury of peripheral nerves—most often the brachial plexus, which is the nerve network ...
Parkinsonism-dementia-ALS complex is a rare brain and nerve disease that looks like three illnesses happening together: amyotrophic lateral sclerosis (ALS), ...
Guam disease is a rare brain and nerve disorder that was once common in the Indigenous Chamorro people of Guam and in a few other Western Pacific locations. ...
Lytico-bodig disease is a rare nerve and brain disease first seen in the Indigenous Chamorro people of Guam and, to a lesser extent, in a few places in the ...
Amyotrophic Lateral Sclerosis–Parkinsonism–Dementia of Guam (ALS-PDC) is a rare brain and nerve disorder first seen in the Chamorro people of Guam and nearby ...
Amyotrophic Lateral Sclerosis–Parkinsonism–Dementia Complex (ALS-PDC) is a rare, serious brain and nerve disease. It combines three problems in one person: ...
Distal hereditary motor neuropathy with pyramidal features is a genetic (inherited) nerve disease. It mainly damages the motor nerves (the wires that carry ...
Kennedy disease is a rare, inherited nerve-and-muscle disorder. It slowly weakens the muscles of the face, throat (bulbar muscles), arms, and legs. It happens ...
Charcot disease usually means amyotrophic lateral sclerosis (ALS) — a progressive nerve disease that damages the motor neurons (the nerve cells that make ...
Amish lethal microcephaly is a very rare, inherited brain disorder found mainly in certain Old Order Amish communities. Babies are born with a very small head ...
Amelogenesis imperfecta is a group of rare, inherited conditions where the outer white layer of the teeth (enamel) does not form normally. The problem starts ...
Kohlschütter–Tönz syndrome (KTS) is a very rare inherited condition. It usually starts in the first year of life. The key signs are: seizures (epilepsy), slow ...
Epilepsy–dementia–amelogenesis imperfecta syndrome is a genetic disease that a child gets when they inherit a faulty copy of a gene from both parents. The most ...
Non-syndromic amelia of the hindlimb means a baby is born without one or both legs (the lower limb is completely missing), and no other major birth-defect ...
Echinococcus multilocularis disease is an infection caused by a tiny tapeworm called Echinococcus multilocularis. People get it when they swallow parasite ...
