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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>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.</p><p>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.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Weyers acrofacial dysostosis?"},{"bodyHtml":"<p>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.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"weyers-acrofacial-dysostosis","sourceDocuments":[{"name":"Weyers acrofacial dysostosis","reviewed":"2012-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:48.550229+00:00","label":"Causes","pageSha256":"6f1c036298d8556da91d62e3e42eb1a0ef4b6658ea21523e004eb860f2ab87d6","sourceUrl":"https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Weyers acrofacial dysostosis"},"schemaVersion":1}