Orphanet: Ankyloblepharon ectodermal defects cleft lip/palate syndrome

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Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Disease definition

An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.


Classification level: Disorder
  • Synonym(s):
    • AEC syndrome
    • Hay-Wells syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q82.4
  • OMIM: 106260
  • UMLS: C1785148
  • MeSH: C535289
  • GARD: 6571
  • MedDRA: -

Detailed information


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