Weyers Acrofacial Dysostosis (WAD)

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Disease Ontology 12 DOID:0111571 OMIM® 57 193530 KEGG 36 H02158 MeSH 44 C536695 D004413 SNOMED-CT 67 277807007 MESH via Orphanet 45 C536695

ICD10 via Orphanet 33 Q75.4 UMLS via Orphanet 71 C0457013 Orphanet 58 ORPHA952 MedGen 41 C0457013 SNOMED-CT via HPO 68 11375002 16000003 205131007 263681008 29553002 299032009 43476002 44593008 64969001 707609006 87065009 92821006 more UMLS 70 C0457013

MedlinePlus Genetics : ⁴³ Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.

MalaCards based summary : Weyers Acrofacial Dysostosis, also known as curry-hall syndrome, is related to ellis-van creveld syndrome and acrofacial dysostosis. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Hedgehog signaling pathway and Signaling by GPCR. Affiliated tissues include heart, bone and kidney, and related phenotypes are hypoplastic toenails and abnormal fingernail morphology

Disease Ontology : ¹² An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has material basis in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 952 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.

OMIM® : ⁵⁷ Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997). (193530) (Updated 20-May-2021)

KEGG : ³⁶ Weyers acrofacial dysostosis, also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog signaling.

UniProtKB/Swiss-Prot : ⁷² Acrofacial dysostosis, Weyers type: 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.

Clinical features from OMIM®:

193530 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Weyers Acrofacial Dysostosis

Search GEO for disease gene expression data for Weyers Acrofacial Dysostosis.