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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.

ORPHA:952

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
  • ICD-11: LD25.2
  • OMIM: 193530
  • UMLS: C0457013
  • MeSH: C536695
  • GARD: 497
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Deutsch (2004)

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.