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Acrofacial dysostosis, Weyers type
rareAcrofacialdysostosis, 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.
- Identifiers
- MONDO:0008673 OMIM:193530Orphanet:952
- Part of
- Acrofacial dysostosisEctodermal dysplasia syndromeMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- acrofacial dysostosis of Weyers · curry Hall syndrome · curry-Hall syndrome · wad · Weyers acrodental dysostosis
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