Variants
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Orofacial cleft 11

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Description

Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 (119530).

OMIM

  • Mode of Inheritance

  • Polygenic inheritance

VARIANTS

48

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Genes

External Links

  • OMIM

    600625

  • Orphanet
  • HPO
  • Medgen

    C2677434

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