Acrofacial dysostosis, Weyers type
Acrofacial dysostosis, Weyers type
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, 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.
Also known as curry-Hall syndrome, Weyers acrodental dysostosis, Weyers acrofacial dysostosis — per MONDO