/absent radius-anogenital anomalies syndrome

absent radius-anogenital anomalies syndrome

Rare Disease

MONDO:0010718

Also Known As

radial aplasia and anogenital anomaliesradial aplasia, X-linkedradius absent anogenital anomalies

Definition

Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.