Conditions / Syndrome
popliteal pterygium syndrome
info · 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/
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.
Signs and symptoms
- Cleft palate
- Opacification of the corneal stroma
- Anal atresia
- Flexion contracture
- Skin tags
- Absent external genitalia
- Short nose
- Absent palmar crease
- Short metacarpal
- Hypertelorism
Also known as: facio-genito-popliteal syndrome; popliteal web syndrome