Popliteal pterygium syndrome (PPS)

Definition:

Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing popliteal connective tissue, syndactyly, and genital abnormalities.

References:

[1]. Noriko Matsuzawa, et al. Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. Am J Med Genet A. 2010 Sep;152A(9):2262-7. [Content Brief]

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