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.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

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)

Completed 1

Kids test new bionic foot design

Knowledge-focused Completed

This study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.

Sponsor: Össur Iceland ehf • Aim: Knowledge-focused

Last updated Jun 27, 2026 14:00 UTC

Popliteal pterygium syndrome

Where it sits in the disease tree

Kids test new bionic foot design