absent radius-anogenital anomalies syndrome
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.
MONDO:0003847
hereditary disease
is_a
MONDO:0018234
dysostosis
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MONDO:0019054
congenital limb malformation
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radius absent anogenital anomalies
related