Absent radius-anogenital anomalies syndrome

Orpha code: 3016OMIM code: 312190

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.

Disease data
Classification

Malformation syndrome

ORPHA code
3016
OMIM code
312190
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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