Andermann Syndrome
Andermann syndrome is a rare, inherited neurologic disorder that combines two major problems. First, the long peripheral nerves that control movement and carry sensation do not develop properly, ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Aicardi–Goutières Syndrome (AGS)
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 viral infection—even when no virus is ...
Advanced Sleep Phase Disorder
Advanced Sleep Phase Disorder (ASPD)—sometimes called advanced sleep-wake phase disorder (ASWPD) or the advanced sleep-phase type (ASPT) of circadian rhythm sleep-wake disorder—is a body-clock ...
Adams–Oliver syndrome
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 form—called aplasia cutis congenita ...
Chronic Motor Axonal Neuropathy
Chronic Motor Axonal Neuropathy (sometimes labelled chronic inflammatory axonal polyneuropathy or the “motor-predominant axonal variant of CIDP”) is a long-lasting disease in which the immune system ...
Acute Motor Axonal Neuropathy
Acute Motor Axonal Neuropathy—usually called AMAN—is a fast-moving (acute), immune-triggered disease that attacks the long “wiring” (axons) of motor nerves. Unlike classic Guillain-Barré syndrome ...
Chronic Hereditary Multiple Exostoses (HME) Syndrome
Chronic Hereditary Multiple Exostoses (HME)—also called hereditary multiple osteochondromas or diaphyseal aclasis—is a lifelong genetic disorder in which dozens (sometimes hundreds) of ...
Acute HME Syndrome
Acute hepatomyoencephalopathy (HME) syndrome is a rare but devastating multisystem toxic disorder characterized by simultaneous injury to the liver (hepato-), skeletal muscle (myo-), and brain ...
Activation Syndrome
Activation Syndrome is a treatment-emergent adverse event most commonly observed early in the course of antidepressant therapy. Clinically, it manifests as a hyperarousal state marked by heightened ...
Abetalipoproteinemia
Abetalipoproteinemia, also known as Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder in which the body cannot properly assemble or secrete the lipoproteins that carry dietary fats ...
Abdallat–Davis–Farrage Syndrome
Abdallat–Davis–Farrage syndrome is a rare, autosomal recessive neurocutaneous disorder first characterized in 1980 by Abdallat, Davis, Farrage, and McDonald in a Jordanian family. Clinically, it ...
3C Syndrome
3C syndrome, also known as Ritscher–Schinzel syndrome or cranio-cerebello-cardiac (CCC) dysplasia, is a rare autosomal recessive disorder characterized by a classic triad of craniofacial anomalies, ...
1q21.1 Duplication Syndrome
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 (q) arm of chromosome 1 is present in ...
1q21.1 Deletion Syndrome
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 chromosome 1, specifically at band 21.1. ...
Cleidocranial Dysplasia
Cleidocranial Dysplasia, often abbreviated as CCD, is a rare genetic disorder that affects the development of bones and teeth. It is characterized by skeletal abnormalities, particularly involving ...
Krabbe Disease
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 deficiency of an enzyme called ...
Consanguineous Marriage Disorders
Consanguineous marriages, also known as cousin marriages, occur when individuals within a family tree marry one another. While such unions are culturally acceptable in some societies, they can lead ...
Treatments for Parsonage-Turner Syndrome
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 function in the muscles of the shoulder and ...
Systemic Anti-Oj Syndrome (SAOS)
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, causes, symptoms, diagnostic tests, ...
Cutaneous Anti-Oj Syndrome
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 need to know about this syndrome in ...
