Aase-Smith syndrome

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Aase-Smith syndrome

An inherited, possibly autosomal dominant MIM 147800 condition characterised by hypoplastic bone marrow and anaemia, and thumbs with 3 rather than 2 phalanges, which may be accompanied by leukopenia, radial hypoplasia, narrow shoulders, retinopathy, late closure of fontenels, mild growth retardation, cleft lip/palate, hepatosplenomegaly, and cardiac anomalies—e.g., ventricular septal defect.

Aase-Smith syndrome

An AD condition characterized by hypoplastic BM and thumbs with 3 rather than 2 phalanges, which may be accompanied by leukopenia, radial hypoplasia, narrow shoulders, retinopathy, late closure of fontenels, mild growth retardation, cleft lip/palate, hepatosplenomegaly, and cardiac anomalies–eg, VSD