Kohlschütter–Tönz Syndrome
Kohlschütter–Tönz Syndrome (OMIM #226750) is an ultra-rare, autosomal-recessive neurodevelopmental disorder first described in a Swiss family in 1974. Fewer than one person in a million is thought to ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Klüver–Bucy Syndrome
Klüver–Bucy syndrome is a rare neuro-behavioral disorder that appears when both medial temporal lobes—especially the amygdala and hippocampus—are damaged by trauma, infection, stroke, surgery, tumors ...
Karak Syndrome
Karak syndrome is an ultra-rare, inherited neurological disease in which toxic amounts of iron build up in deep brain structures—especially the basal ganglia and cerebellum—causing steadily worsening ...
Vernet Syndrome
Vernet syndrome, also known as jugular foramen syndrome, is a rare disorder that happens when the group of nerves that travel through a key opening in the skull—called the jugular foramen—become ...
Jugular Bulb Thrombosis (JBT)
Jugular bulb thrombosis is a blood-clotting disorder that blocks the venous “bulb” where the sigmoid sinus drains into the upper internal jugular vein at the skull base. Although it behaves like ...
Villaret Syndrome
Villaret Syndrome is a rare but striking neurological condition in which a single injury sitting deep inside the upper neck—the retro-parotid (parapharyngeal) space—knocks out five important ...
Collet-Sicard syndrome (CSS)
Collet-Sicard syndrome (CSS) is a rare but dramatic neurological disorder in which all four “lower” cranial nerves—IX (glossopharyngeal), X (vagus), XI (accessory) and XII (hypoglossal)—stop working ...
Types of Jugular Foramen Syndrome
Jugular foramen syndrome (JFS), often called Vernet syndrome, is a rare skull-base condition in which anything that irritates or squashes the jugular foramen—the bony tunnel that cranial nerves IX ...
Joubert Syndrome
Joubert syndrome (JS) is a rare, inherited condition in which the back part of a baby’s brain—the cerebellar vermis—and the adjoining brain-stem fail to finish their normal blueprint during the first ...
Jaffe–Campanacci Syndrome
Jaffe–Campanacci syndrome (JCS) is an extremely rare bone-and-skin condition in which a child or young adult develops many non-ossifying fibromas—soft, fibrous lumps that replace normal bone ...
Incontinentia Pigmenti
Incontinentia pigmenti (IP) is a rare, X-linked dominant genetic condition that mainly affects girls because boys who inherit the faulty gene (IKBKG/NEMO) often die before birth. The gene normally ...
Horner’s Syndrome
Horner’s syndrome (sometimes called oculosympathetic paresis) is a cluster of eye- and face-related changes that appear when the three-neuron sympathetic nerve pathway to the head is injured or ...
Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia—also called Osler-Weber-Rendu disease—is a rare, lifelong, inherited condition that makes some blood vessels grow in an unusual way. Instead of a normal tiny ...
Hemimegalencephaly
Hemimegalencephaly (HME) is a rare birth defect in which one half of the brain grows abnormally large and disorganized. The over-growth distorts the normal wiring of cortex and white matter, leading ...
Heerfordt Syndrome
Heerfordt syndrome is a rare, face-and-eye-centred form of the systemic disease sarcoidosis. In sarcoidosis the body’s immune system builds tiny clusters of inflamed tissue called granulomas. When ...
HEC Syndrome
HEC syndrome is an extremely rare birth disorder in which H = communicating Hydrocephalus (excess fluid around the brain), E = Endocardial Fibroelastosis (scar-like thickening of the heart’s inner ...
Harlequin Syndrome
Harlequin syndrome (HS) is a rare problem of the body’s “automatic” (autonomic) nervous system. In HS, the tiny sympathetic nerves that normally make both sides of the face flush and sweat at the ...
Hamanishi-Ueba-Tsuji Syndrome (HUTS)
Hamanishi-Ueba-Tsuji syndrome is an extremely rare hereditary motor-and-sensory neuropathy first described in Japan in 1985. Babies are born with absent or seriously under-developed extensor muscles ...
Miller Fisher Syndrome
Miller Fisher Syndrome is a rare, nerve-related illness that belongs to the Guillain-Barré Syndrome (GBS) family. While classic GBS mostly weakens the limbs, MFS strikes mainly at the eyes, balance ...
Acute Motor Axonal Neuropathy
Acute Motor Axonal Neuropathy—usually shortened to AMAN—is a fast-moving, immune-related attack on the motor (movement-controlling) portions of the peripheral nerves. It belongs to the wider ...
