Bartsocas-Papas Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the RIPK4 gene, encoding receptor-interacting serine/threonine-protein kinase 4. It is characterized by popliteal pterygia, ankyloblepharon, cleft lip/palate, and syndactyly. Early lethality is common.

**Synonyms:** - Autosomal Recessive Popliteal Pterygium Syndrome - BPS