28. Eisenmenger Syndrome Definition Eisenmenger syndrome (ES) is the presence of a bidirectional or exclusively right-to-left cardiac shunt in conjunction with pulmonary hypertension and a patent heart defect. Incidence Congenital…
27. Ehlers-Danlos Syndrome Definition Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that vary according to clinical and biochemical evidence, inheritance mode, and disorder severity (mild to…
13. Behçet’s Disease Definition Behçet’s disease is believed to be an autoimmune disorder characterized by uveitis and retinal vasculitis, optic atrophy, and aphthous lesions of the mouth and genitalia. Frequently…
43. Huntington’s Chorea Definition Huntington’s chorea is an incurable, autosomal dominant inherited disorder, with onset as an adult, associated with loss in specific subsets of neurons in the basal ganglia…
32. Facioscapulohumeral Dystrophy Definition Facioscapulohumeral dystrophy (FSHD) is a relatively benign, autosomal dominant form of muscular dystrophy that produces marked atrophy of the facial musculature, shoulder girdle, and arm. Facioscapulohumeral…
25. Duchenne’s Dystrophy Definition Duchenne’s dystrophy is a chronic, progressive, severe pseudohypertrophic muscular dystrophy—the most commonly occurring type. It is characterized by increasing weakness of pelvic and shoulder girdle musculature,…
40. Goodpasture Syndrome Definition Goodpasture syndrome is an autoimmune process composed of acute glomerulonephritis in conjunction with pulmonary alveolar hemorrhage and antiglomerular basement membrane antibodies. Incidence The incidence of Goodpasture…
30. Epidermolysis Bullosa Definition Epidermolysis bullosa (EB) is a group of disorders that give rise to blister formation secondary to even the most minor mechanical trauma. Incidence In the United…
42. Homocystinuria Definition Homocystinuria is an autosomal recessive disorder of methionine metabolism that produces an abnormal accumulation of homocystine, homocysteine-cysteine complex, and other metabolites in the blood and urine. Incidence…
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…
