Bobble-Head Doll Syndrome (BHDS)
Bobble-head doll syndrome (BHDS) is an exceptionally rare pediatric movement disorder in which a child’s head bobs rhythmically 2–3 times per second, usually in a forward-and-back or less often ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Bing–Neel Syndrome
Bing–Neel syndrome is an exceptionally rare complication of Waldenström macroglobulinemia (WM) in which the same lymphoplasmacytic lymphoma (LPL) cells that crowd the bone marrow escape into the ...
Bhaskar–Jagannathan Syndrome (BJS)
Bhaskar–Jagannathan Syndrome (BJS) is an extremely rare, presumably inherited neuro-ocular-skeletal disorder first described in 1974 by the Indian neurologists P. A. Bhaskar and K. Jagannathan. They ...
Benign Fasciculation Syndrome
Benign fasciculation syndrome is a neurological condition in which healthy people experience frequent, spontaneous twitches (“fasciculations”) of the small bundles of muscle fibres that make up a ...
Benedikt Syndrome
Benedikt syndrome—also called paramedian midbrain syndrome or red-nucleus syndrome—is a rare stroke-like disorder that happens when a very small area in the upper brainstem (the midbrain tegmentum) ...
Behr Syndrome
Behr syndrome is a rare, inherited neuro-ophthalmological disorder first described in 1909 by Carl Behr. Children typically present before school-age with bilateral optic-nerve atrophy that steadily ...
Beck–Fahrner Syndrome
Beck–Fahrner syndrome is an extremely rare genetic condition caused by pathogenic variants in the TET3 gene on chromosome 2p13.1. The gene encodes tet-methyl-cytosine dioxygenase 3, an enzyme that ...
Bardet–Biedl Syndrome (BBS)
Bardet–Biedl syndrome is a ciliopathy—a disorder caused by tiny hair-like “antennae” called primary cilia that stick out from almost every cell in the body. Inside each cilium sits a protein courier ...
Bannayan–Riley–Ruvalcaba Syndrome (BRRS)
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare, inherited over-growth condition that sits within the wider “PTEN hamartoma tumour syndrome (PHTS)” family. In everyday language, that means a ...
Bálint’s Syndrome
Bálint’s syndrome is an uncommon but striking disorder of higher-order vision and spatial awareness that appears when both parietal-occipital lobes of the brain are injured. In its classic triad the ...
Babinski–Nageotte syndrome (BNS)
Babinski–Nageotte syndrome (BNS) is an alternating medullary brain-stem syndrome that appears when a stroke, tumor, inflammation, or other lesion damages the back-and-side (dorsolateral) of the lower ...
Athabaskan Brainstem Dysgenesis Syndrome (ABDS)
Athabaskan brainstem dysgenesis syndrome (ABDS) – also called HOXA1-related brain-stem dysgenesis or an HOXA1 syndrome – is an extremely rare genetic condition first described in children of Navajo ...
Ataxia–Telangiectasia
Ataxia–telangiectasia (A-T) is a rare, inherited, multi-system disorder in which a single gene glitch sabotages the body’s master DNA-repair switch, gradually harming the brain, the immune system, ...
Arts Syndrome
Arts syndrome is an ultra-rare, X-linked, inherited neurological disorder caused by “loss-of-function” mutations in the PRPS1 gene, which encodes the enzyme phosphoribosyl-pyrophosphate synthetase-1 ...
Arakawa’s Syndrome II
Arakawa’s syndrome II (also called methionine-synthase deficiency, tetrahydrofolate-methyl-transferase deficiency, or N5-methyl-homocysteine-transferase deficiency) is a very rare, autosomal-dominant ...
Anton-Babinski Syndrome
Anton syndrome—also called Anton-Babinski syndrome or visual anosognosia—is a rare neurological condition in which a person is cortically blind yet firmly (and often aggressively) denies being blind. ...
Types of Antiphospholipid Syndrome
Antiphospholipid syndrome is an autoimmune clotting disorder in which “mis-programmed” antibodies (antiphospholipid antibodies, or aPL) stick to phospholipids and clotting proteins in blood vessels. ...
Anterior Spinal Artery Syndrome
Anterior spinal artery syndrome—sometimes called anterior cord syndrome or, more colloquially, a “spinal stroke”—happens when blood flow through the anterior spinal artery (ASA) is interrupted. That ...
Anterior Cerebral Artery Syndrome
Anterior cerebral artery (ACA) syndrome is the cluster of neurological deficits that appears when blood flow through one or both anterior cerebral arteries is suddenly reduced or blocked. Because the ...
Angelman Syndrome
Angelman syndrome (AS) is a lifelong genetic condition that affects the way the brain develops. Most cases happen because a piece of DNA on chromosome 15 that should come from the mother is missing ...
