Absent radius-anogenital anomalies syndrome

Orpha code: 3016OMIM code: 312190

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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