Orphanet: Absent radius anogenital anomalies syndrome

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Disease definition

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.

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Absent radius-anogenital anomalies syndrome

ORPHA:3016

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

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