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Weyers acrofacial dysostosis
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Weyers acrofacial dysostosisOn this page:
Reviewed December 2012
What is Weyers acrofacial dysostosis?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. Read more about Ellis-van Creveld syndrome. How common is Weyers acrofacial dysostosis?Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide. What genes are related to Weyers acrofacial dysostosis?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. The mutations that cause Weyers acrofacial dysostosis result in the production of an abnormal EVC or EVC2 protein. It is unclear how the abnormal proteins lead to the specific signs and symptoms of this condition. Studies suggest that they interfere with Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the teeth, nails, and bones. How do people inherit Weyers acrofacial dysostosis?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. Where can I find information about diagnosis or management of Weyers acrofacial dysostosis?These resources address the diagnosis or management of Weyers acrofacial dysostosis and may include treatment providers. You might also find information on the diagnosis or management of Weyers acrofacial dysostosis in Educational resources and Patient support. General information about the diagnosis and management of genetic conditions is available in the Handbook. To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook. Where can I find additional information about Weyers acrofacial dysostosis?You may find the following resources about Weyers acrofacial dysostosis helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for Weyers acrofacial dysostosis?
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook. What if I still have specific questions about Weyers acrofacial dysostosis?Where can I find general information about genetic conditions?The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful. What glossary definitions help with understanding Weyers acrofacial dysostosis?autosomal ; autosomal dominant ; cell ; embryo ; gene ; hypodontia ; mutation ; polydactyly ; protein ; short stature ; sign ; stature ; symptom ; syndrome You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology.
References (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook. |