autosomal dominant popliteal pterygium syndrome
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.
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0017435
popliteal pterygium syndrome
is_a
PPS
related
cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies
related
facio-genito-popliteal syndrome
broad
popliteal pterygium syndrome
related
popliteal pterygium syndrome 1
exact
popliteal pterygium syndrome, autosomal dominant
exact
popliteal web syndrome
exact