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Blepharo-cheilo-odontic syndrome

Disease definition

A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.

ORPHA:1997

Classification level: Disorder
  • Synonym(s):
    • BCD syndrome
    • Blepharocheilodontic syndrome
    • Clefting-ectropion-conical teeth syndrome
    • Ectropion inferior-cleft lip and/or palate syndrome
    • Elschnig syndrome
    • Lagophthalmia-cleft lip and palate syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 119580  617681
  • UMLS: C1861536
  • MeSH: -
  • GARD: 2071  3167
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.