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cleft palate

Tuesday 9 November 2004


- 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)


- 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


- Jugessur A, Murray JC. Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev. 2005 Jun;15(3):270-8. PMID: #15917202#


  • Bilateral cleft lip and cleft palate in a fetus
  • Median cleft palate in polymalformative syndrome
  • Cleft palate in malformative syndrome