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EEC syndrome

Disease definition

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

ORPHA:1896

  • Synonym(s):
    • Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q82.4
  • OMIM: 129900  604292
  • UMLS: C0406704  C1851841
  • MeSH: -
  • GARD: 2076
  • MedDRA: -

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