/autosomal dominant popliteal pterygium syndrome

autosomal dominant popliteal pterygium syndrome

Rare Disease

MONDO:0007334

Also Known As

facio-genito-popliteal syndromepopliteal pterygium syndrome 1popliteal pterygium syndrome, autosomal dominantpopliteal web syndromePPScleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomaliescleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomaliesfaciogenitopopliteal syndromepopliteal pterygium syndrome

Definition

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.