| H00611 | |
| H number | H00611 |
| Name | Popliteal pterygium syndrome (PPS) |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | IRF6 [HSA:3664] [KO:K10154] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Isolated orofacial clefts are described in H00516. |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.2 MeSH: C562509 OMIM: 119500 |
| Reference | PMID:20803643 AUTHORS Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K TITLE Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. JOURNAL Am J Med Genet A 152A:2262-7 (2010) DOI:10.1002/ajmg.a.33338 PMID:20301581 AUTHORS Durda KM, Schutte BC, Murray JC TITLE IRF6-Related Disorders JOURNAL GeneReviews (1993) |