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Familial median cleft of the upper and lower lips(OFC14)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonym: Orofacial cleft 14
Modes of inheritance:
Unknown inheritance
MedGen UID:
Concept ID:
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Monarch Initiative: MONDO:0014388
OMIM®: 615892
Orphanet: ORPHA401942


Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. [from ORDO]

Clinical features

From HPO
Median cleft upper lip
MedGen UID:
Concept ID:
Congenital Abnormality
A type of cleft lip presenting as a midline (median) gap in the upper lip.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial median cleft of the upper and lower lips

Recent clinical studies

Clinical prediction guides

Yıldırım Y, Kerem M, Köroğlu Ç, Tolun A
Eur J Hum Genet 2014 Mar;22(3):333-7. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.138. PMID: 23860042Free PMC Article

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