WT limb-blood syndrome

Definition

A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.

Disease data

Classification

Disease

ORPHA code

3466

OMIM code

194350

ICD10 code

D61.0

ICD11 code

3A70.0

*Soruce