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.
Marek Hampl practices in Brno, Czech Republic. Hampl is rated as a Distinguished expert by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Acrofacial Dysostosis Weyers Type, Cranioectodermal Dysplasia, Acrofacial Dysostosis Catania Type, and Cleft Lip and Palate.
Maria Descartes is a Pediatrics specialist and a Medical Genetics expert in Birmingham, Alabama. Descartes has been practicing medicine for over 40 years and is rated as a Distinguished expert by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Miller Syndrome, Acrofacial Dysostosis Weyers Type, Acrofacial Dysostosis Catania Type, and Acrodysostosis. Descartes is currently accepting new patients.
Thomas Gampper is a Plastic Surgeon in Charlottesville, Virginia. Gampper has been practicing medicine for over 38 years and is rated as an Advanced expert by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Acrofacial Dysostosis Nager Type, Treacher Collins Syndrome, Acrodysostosis, and Acrofacial Dysostosis Rodriguez Type. Gampper is currently accepting new patients.
Published Date: December 01, 2012Published By: National Institutes of Health
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