Ehlers-Danlos Syndrome
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…
Huntington’s Chorea
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…
Facioscapulohumeral Dystrophy
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…
Behçet’s Disease
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…
Duchenne’s Dystrophy
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,…
Epidermolysis Bullosa
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…
Homocystinuria
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…
Goodpasture Syndrome
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…
Gaucher’s Disease
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…
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…
