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Acrofacial dysostosis, Weyers type

Synonym(s) Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q75.4
  • C0457013
  • C536695
MedDRA -


Disease definition

Acrofacialdysostosis, Weyers type (WAD) is 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.

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