Orphanet: Acrofacial dysostosis, Weyers type

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Acrofacial dysostosis, Weyers type

Disease definition

A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.


Classification level: Disorder
  • Synonym(s):
    • Curry-Hall syndrome
    • Weyers acrodental dysostosis
    • Weyers acrofacial dysostosis
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q75.4
  • OMIM: 193530
  • UMLS: C0457013
  • MeSH: C536695
  • GARD: 497
  • MedDRA: -

Detailed information

Article for general public

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