31. Fabry’s Disease Definition Fabry’s disease is a genetic, congenital, X-linked disorder of glycosphingolipid metabolism that is progressive, destructive, and potentially fatal. Incidence Internationally, among males, the incidence of Fabry’s…
14. Beta Thalassemia Definition Beta thalassemia is an inherited blood disease of abnormal hemoglobin production in which both beta-globin subunit components of normal hemoglobin are absent. Incidence The estimated incidence…
26. Eaton-Lambert Myasthenic Syndrome Definition Eaton-Lambert myasthenic syndrome (ELMS) is an autoimmune disease in which autoantibodies attack the voltage-gated calcium channels (VGCC), thus interfering with the release of acetylcholine at…
22. Denervated (Transplanted) Heart Definition Denervated, or transplanted, heart is not a disease and is something of a misnomer. The denervated heart is a heart that has been donated and…
21. Cystic Hygroma Definition Cystic hygroma is a lymph angioma composed of multiloculated, thin-walled cysts. It is typically benign. Incidence A rare congenital malformation, cystic hygroma occurs in approximately 1:12,000…
19. Cronkhite-Canada Syndrome Definition Cronkhite-Canada syndrome is a very rare, sporadically occurring, uninherited disorder. It is characterized by gastrointestinal polyps, cutaneous pigmentation, alopecia, and onychodystrophy. Incidence Cronkhite-Canada syndrome is an…
17. Churg-Strauss Syndrome Definition Churg-Strauss syndrome (CSS) is an allergic, granulomatous angitis that is a variant of necrotizing vasculitis in which there is significant lung involvement. It also affects the…
16. Choanal Atresia Definition Choanal atresia is the congenital absence or closure of the paired openings between the nasal cavity and the nasopharynx. Because this obstruction is complete, the neonate…
15. Budd-Chiari Syndrome Definition Budd-Chiari syndrome is an uncommon condition of obstruction of intrahepatic veins. It is induced by thrombotic or nonthrombotic obstruction of hepatic venous outflow, leading to congestive…
8. Arthrogryposis Definition Arthrogryposis is a nonprogressive condition that is obvious at birth by the characteristic multiple joint contractures that occur throughout the body. The disorder is also known as…
