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acrofacial dysostosis, Weyers type

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description 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.
Uniprot Description An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
Mondo Term and Equivalent IDs
MONDO:0008673:  acrofacial dysostosis, Weyers type
DOID:0111571: 
GARD:0000497: 
MESH:C536695: 
Orphanet:952: 
SCTID:277807007: 
UMLS:C0457013: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)