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Autosomal dominant popliteal pterygium syndrome
rareAutosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
- Identifiers
- MONDO:0007334 OMIM:119500Orphanet:1300
- Causal genes
- IRF6
- Part of
- Autosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromePopliteal pterygium syndrome
- Also known as
- cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies · popliteal pterygium syndrome · popliteal pterygium syndrome 1 · popliteal pterygium syndrome, autosomal dominant · popliteal web syndrome
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