Popliteal pterygium syndrome

MONDO:0017435

A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.

Also known as: PPS

1 clinical trial for this condition and its sub-types, 0 tagged with Popliteal pterygium syndrome itself.

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Sub-types of Popliteal pterygium syndrome

Bartsocas-Papas syndrome 1 0 trials
Bartsocas-Papas syndrome 2 0 trials
Autosomal dominant popliteal pterygium syndrome 0 trials

Including sub-types (1) Tagged with Popliteal pterygium syndrome (0)

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