39. Gaucher’s Disease Definition Gaucher’s disease is an autosomal recessive inherited disorder resulting from deficiency of acid beta-glucosidase. It is characterized by thrombocytopenia, anemia, hepatosplenomegaly, and bone pain. Incidence The…
37. Galactosemia Definition Galactosemia is an inherited metabolic deficiency of the galactose-1-phosphate uridyltransferase enzyme. This is one of the most common carbohydrate metabolism disorders and may be life threatening or…
29. Encephalocele Definition Encephalocele is a herniation of a portion of the brain and/or meninges through a defect of the bony skull table. The condition may be congenital or result…
36. Friedreich’s Ataxia Definition Friedreich’s ataxia is an ataxia inherited via an autosomal recessive gene. This is the most common autosomal recessive form of ataxia, accounting for about half of…
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…
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…
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…
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…
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…
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…
