Disease Information for Anemia, congenital aplastic

Anemia, Blackfan Diamond; Anemia, Congenital Pure Red Cell

Aplasia, Congenital Pure Red Cell; Chronic Congenital Aregenerative Anemia; Constitutional Erythroid Hypoplasia;

DBA; DBS; Diamond-Blackfan Anemia; Erythrogenesis Imperfecta ; Estren-Dameshek variant of Fanconi Anemia;

Hypoplastic Congenital Anemia; Blackfan-Diamond Anemia is a rare blood disorder of unknown cause characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) and various other symptoms and findings including slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder blades (scapulae), webbing or abnormal shortening of the neck due to fusion of certain bones in the spine (cervical vertebrae), hand deformities, congenital heart defects, and/or other abnormalities; The symptoms and physical findings associated with Blackfan-Diamond Anemia vary greatly from case to case; A consistent "pattern" of symptoms and physical findings has not been identified; Blackfan-Diamond Anemia may be inherited as either an autosomal dominant or recessive genetic trait----------[NORD 2005]----------------

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