Variants
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Blepharocheilodontic syndrome 1

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Description

The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

23

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Genes

External Links

  • OMIM

    119580

  • Orphanet
  • HPO
  • Medgen

    C4551988

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