popliteal pterygium syndrome
Findings
No curated finding names popliteal pterygium syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017435), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IRF6HGNC:6121
- Strong · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: popliteal pterygium syndrome
- Also called
- PPS