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).
Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from these genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.
Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide.
Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition.
Devi Shetty is in Ghaziabad, India. Shetty is rated as an Advanced expert by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Oral Cancer, Acrofacial Dysostosis Weyers Type, Cavernous Lymphangioma, and Fibromatosis.
Marek Hampl is in Brno, Czech Republic. Hampl is rated as an Advanced expert by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Acrofacial Dysostosis Weyers Type, Achondroplasia, Cranioectodermal Dysplasia, and Acrofacial Dysostosis Catania Type.
Lisong Shi is in Wuhan, China. Shi is rated as an Advanced expert by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Acrofacial Dysostosis Weyers Type, Acrofacial Dysostosis Catania Type, Ellis-Van Creveld Syndrome, and Clouston Syndrome.
Published Date:updated Last, December
Published By: National Institutes of Health
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