Types
sporadic cleft lip/palate
non-syndromic cleft lip/palate
- X-linked cleft palate with ankyloglossia (CPX) (TBX22 mutations) (MIM.303400)
syndromic cleft lip/palate
- cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) (MIM.225000)
- Margarita Island ectodermal dysplasia (MIM.225060)
- otopalatodigital syndrome type 2 (OTD2)
Etiologies
germline mutations in PVRL1 gene in Margarita Island type of ectodermal dysplasia with cleft lip/palate (MIM.225060)
- nonsyndromic, sporadic cleft lip with or without cleft palate in Margarita Island in northern Venezuela. (CLPED1 patients - Margarita Island type of ectodermal dysplasia with cleft lip/palate)
germline mutations in PVRL1 gene in Zlotogora-Ogur syndrome, a cleft lip/palate-ectodermal dysplasia syndrome (MIM.225000)
Case records
Case 10299
Case 10460: malformative syndrome with extralobal pulmonary sequestration and unilateral renal agenesis
References
Jugessur A, Murray JC. Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev. 2005 Jun;15(3):270-8. PMID: 15917202
