Autosomal dominant popliteal pterygium syndrome

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Name:
Autosomal dominant popliteal pterygium syndrome
Description:
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
ORPHAcode:
1300
Synonyms:
Facio-genito-popliteal syndrome
Popliteal web syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14