Andermann syndrome is a rare, inherited neurologic disorder that combines two major problems. First, the long peripheral nerves that control movement and carry ...
Dr. Mihaela G. Alexander, MD - Neurologists, Brain, Nervous System Disorders
Aicardi–Goutières syndrome is a rare, inherited, immune-driven brain and skin disorder in which a baby’s cells mistakenly behave as if they are fighting a ...
Advanced Sleep Phase Disorder (ASPD)—sometimes called advanced sleep-wake phase disorder (ASWPD) or the advanced sleep-phase type (ASPT) of circadian rhythm ...
Adams–Oliver syndrome is a rare, inherited birth-defect disorder in which babies are born with patchy areas where scalp skin (and sometimes bone) failed to ...
Chronic Motor Axonal Neuropathy (sometimes labelled chronic inflammatory axonal polyneuropathy or the “motor-predominant axonal variant of CIDP”) is a ...
Acute Motor Axonal Neuropathy—usually called AMAN—is a fast-moving (acute), immune-triggered disease that attacks the long “wiring” (axons) of motor nerves. ...
Chronic Hereditary Multiple Exostoses (HME)—also called hereditary multiple osteochondromas or diaphyseal aclasis—is a lifelong genetic disorder in which ...
Acute hepatomyoencephalopathy (HME) syndrome is a rare but devastating multisystem toxic disorder characterized by simultaneous injury to the liver (hepato-), ...
Activation Syndrome is a treatment-emergent adverse event most commonly observed early in the course of antidepressant therapy. Clinically, it manifests as a ...
Abetalipoproteinemia, also known as Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder in which the body cannot properly assemble or secrete the ...
Abdallat–Davis–Farrage syndrome is a rare, autosomal recessive neurocutaneous disorder first characterized in 1980 by Abdallat, Davis, Farrage, and McDonald in ...
3C syndrome, also known as Ritscher–Schinzel syndrome or cranio-cerebello-cardiac (CCC) dysplasia, is a rare autosomal recessive disorder characterized by a ...
1q21.1 duplication syndrome (also called 1q21.1 microduplication) is a chromosomal copy-number variant in which a small segment of genetic material on the long ...
1q21.1 deletion syndrome (also called 1q21.1 microdeletion) is a genetic disorder caused by the loss of a small segment of DNA on the long arm (q arm) of ...
Cleidocranial Dysplasia, often abbreviated as CCD, is a rare genetic disorder that affects the development of bones and teeth. It is characterized by skeletal ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Krabbe Disease, also known as globoid cell leukodystrophy, is a rare and progressive genetic disorder that affects the nervous system. It is caused by a ...
Consanguineous marriages, also known as cousin marriages, occur when individuals within a family tree marry one another. While such unions are culturally ...
Parsonage-Turner Syndrome (PTS) is a rare condition that affects the nerves in your shoulders. It can cause sudden and severe pain, weakness, and loss of ...
Systemic Anti-Oj Syndrome (SAOS) is a complex condition that affects multiple systems in the body. In this guide, we'll break down what SAOS is, its types, ...
Cutaneous Anti-Oj Syndrome is a rare condition that affects the skin, causing various symptoms and discomfort. In this article, we'll break down everything you ...
