DiGeorge Syndrome
24. DiGeorge Syndrome Definition DiGeorge syndrome is a congenital disorder involving hypoplasia or aplasia of the thymus and parathyroid glands secondary to defective development of the third and fourth pharyngeal…
Fibrous Dysplasia
35. Fibrous Dysplasia Definition Fibrous dysplasia is a dysplastic bone disorder wherein immature woven bone forms directly from abnormal fibrous connective tissue. Fibro-osseous tissue within affected bones expands as a…
Dermatomyositis
23. Dermatomyositis Definition Dermatomyositis is a disorder of collagen/connective tissue characterized by nonsuppurative skin inflammation and subcutaneous tissue and muscle fiber necrosis. It may be acute, subacute, or chronic. Incidence…
Felty Syndrome
34. Felty Syndrome Definition Felty syndrome is a potentially serious condition associated with seropositive rheumatoid arthritis. It is characterized by rheumatoid arthritis along with splenomegaly and granulocytopenia. Incidence Felty syndrome…
Fanconi Syndrome
33. Fanconi Syndrome Definition Fanconi syndrome is an autosomal recessive, inherited disorder characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discolorations resulting from melanin deposits. The melanin deposits…
Cystic Fibrosis
20. Cystic Fibrosis Definition Cystic fibrosis (CF) is an ultimately lethal inherited disorder. It predominately affects the function of endocrine glands, with wide-ranging effects on multiple organ systems, including the…
Cor Pulmonale
18. Cor Pulmonale Definition Cor pulmonale is the alteration of the structure and function of the right ventricle as the result of a primary respiratory disorder. Pulmonary hypertension generally results…
Fabry’s Disease
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…
Beta Thalassemia
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…
Eaton-Lambert Myasthenic Syndrome
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…
