Weyers Acrofacial Dysostosis malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Weyers Acrofacial Dysostosis:
Orphanet epidemiological data:52
weyers acrofacial dysostosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal
weyers acrofacial dysostosis:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Skin diseases
Genetics Home Reference:24 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).
MalaCards based summary: Weyers Acrofacial Dysostosis, also known as weyers acrodental dysostosis, is related to whiplash and acrofacial dysostosis, and has symptoms including postaxial hand polydactyly, abnormality of the fingernails and hypoplastic toenails. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways is Signaling by Hedgehog. Affiliated tissues include bone, heart and skin, and related mouse phenotypes are limbs/digits/tail and craniofacial.
OMIM:50 Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial... (193530) more...
UniProtKB/Swiss-Prot:68 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.
Diseases related to Weyers Acrofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of diseases related to Weyers Acrofacial Dysostosis:
Symptoms by clinical synopsis from OMIM:193530
Clinical features from OMIM:193530
Symptoms:52 (show all 19)
HPO human phenotypes related to Weyers Acrofacial Dysostosis:(show all 23)
MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:34
Bone, Heart, Skin
UniProtKB/Swiss-Prot genetic disease variations for Weyers Acrofacial Dysostosis:68
Clinvar genetic disease variations for Weyers Acrofacial Dysostosis:5
Search GEO for disease gene expression data for Weyers Acrofacial Dysostosis.
Cellular components related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:
Biological processes related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet