Galactosemia
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…
Encephalocele
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…
Friedreich’s Ataxia
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…
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…
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…
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…
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…
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…
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…
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…
