has characteristic has characteristic has material basis in germline mutation in IRF6 Autosomal dominant inheritance autosomal dominant disease autosomal dominant popliteal pterygium syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6744 https://www.malacards.org/card/autosomal_dominant_popliteal_pterygium_syndrome https://www.malacards.org/card/popliteal_pterygium_syndrome This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163). SCTID:718222000 icd11.foundation:2069589860 popliteal pterygium syndrome 1 popliteal web syndrome MEDGEN:1844082 Orphanet:1300 OMIM:119500 GARD:0003242 popliteal pterygium syndrome MONDO:0007334 popliteal pterygium syndrome, autosomal dominant UMLS:C5848052 Autosomal 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. facio-genito-popliteal syndrome PPS cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome obsolete syndrome or malformation associated with head and neck malformations popliteal pterygium syndrome