Kohlschütter–Tönz Syndrome (OMIM #226750) is an ultra-rare, autosomal-recessive neurodevelopmental disorder first described in a Swiss family in 1974. Fewer ...
Dr. Hadeel Abaza, MD - Orthopedic and Musculoskeletal Disorders
Klüver–Bucy syndrome is a rare neuro-behavioral disorder that appears when both medial temporal lobes—especially the amygdala and hippocampus—are damaged by ...
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 ...
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 ...
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 ...
Villaret Syndrome is a rare but striking neurological condition in which a single injury sitting deep inside the upper neck—the retro-parotid (parapharyngeal) ...
Collet-Sicard syndrome (CSS) is a rare but dramatic neurological disorder in which all four “lower” cranial nerves—IX (glossopharyngeal), X (vagus), XI ...
Jugular foramen syndrome (JFS), often called Vernet syndrome, is a rare skull-base condition in which anything that irritates or squashes the jugular ...
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 ...
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 ...
Incontinentia pigmenti (IP) is a rare, X-linked dominant genetic condition that mainly affects girls because boys who inherit the faulty gene (IKBKG/NEMO) ...
Horner’s syndrome (sometimes called oculosympathetic paresis) is a cluster of eye- and face-related changes that appear when the three-neuron sympathetic nerve ...
Hereditary hemorrhagic telangiectasia—also called Osler-Weber-Rendu disease—is a rare, lifelong, inherited condition that makes some blood vessels grow in an ...
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 ...
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 ...
HEC syndrome is an extremely rare birth disorder in which H = communicating Hydrocephalus (excess fluid around the brain), E = Endocardial Fibroelastosis ...
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 ...
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 ...
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, ...
Acute Motor Axonal Neuropathy—usually shortened to AMAN—is a fast-moving, immune-related attack on the motor (movement-controlling) portions of the peripheral ...
