Disease Information for Anemia, congenital aplastic (Clinical Manifestations)

anemia aplastic congenital, anemia aplastic constitutional, aplastic anemia congenital, aplastic anemia constitutional, Congenital aplastic anaemia, Congenital aplastic anemia, Constitut aplastic anaemia, Constitut aplastic anemia, Constitutional aplastic anaem, Constitutional aplastic anaemia, Constitutional aplastic anemia, Constitutional aplastic anemia (disorder), Constitutional aplastic anemia (dup) (disorder), Familial hypoplastic anaemia, Familial hypoplastic anemia, Hypoplastic anaemia familial, Hypoplastic anemia familial

Anemia, Blackfan Diamond; Anemia, Congenital Pure Red Cell <br>

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

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

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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