Living With Popliteal pterygium syndrome
By Dr. Jamal Johnson, MD · · Genetic Medicine
Our Genetic Medicine team put together this overview of popliteal pterygium syndrome for patients and families.
About this topic
Topic: popliteal pterygium syndrome. A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include 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. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
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