Acrania–Exencephaly–Anencephaly (AEAS) sequence is a chain of events that begins very early in pregnancy when the top end of the neural tube does not close on time. First, the skull bones fail to ...
Alopecia, Neurologic Defects, and Endocrinopathy (ANE) syndrome, a very rare, recessive ribosomopathy caused by changes in the RBM28 gene. ANE syndrome is a rare genetic condition that affects the ...
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 testosterone and DHT). Most people with AIS have ...
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 episodes of muscle weakness or temporary ...
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 cause. The problem happens in the ...
Parsonage–Turner syndrome (PTS) — also called neuralgic amyotrophy or idiopathic brachial neuritis — is a sudden inflammation of nerves in the shoulder and upper arm (the brachial plexus and nearby ...
Amyotrophic neuralgia (neuralgic amyotrophy) is an acute inflammation or injury of peripheral nerves—most often the brachial plexus, which is the nerve network that runs from the neck to the shoulder ...
Parkinsonism-dementia-ALS complex is a rare brain and nerve disease that looks like three illnesses happening together: amyotrophic lateral sclerosis (ALS), parkinsonism, and dementia. It was found ...
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. Doctors now call it amyotrophic lateral ...
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 Western Pacific (the Kii Peninsula of Japan ...
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 islands. It combines three problems: (1) ...
Amyotrophic Lateral Sclerosis–Parkinsonism–Dementia Complex (ALS-PDC) is a rare, serious brain and nerve disease. It combines three problems in one person: weakness and wasting of muscles like ALS, ...
Distal hereditary motor neuropathy with pyramidal features is a genetic (inherited) nerve disease. It mainly damages the motor nerves (the wires that carry signals from the spinal cord to the ...
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 because of a change (expansion) in a ...
Charcot disease usually means amyotrophic lateral sclerosis (ALS) — a progressive nerve disease that damages the motor neurons (the nerve cells that make muscles move). Over time, these nerve cells ...
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 and brain (this is called ...
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 while teeth are developing in the jaw. It ...
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 development or loss of skills, and a ...
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 common gene is ROGDI. The problem ...
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 syndrome is present. “Amelia” means complete ...
