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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Thanatophoric dysplasia?"},{"bodyHtml":"<p>Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.</p><p>The term thanatophoric is Greek for &quot;death bearing.&quot; Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"thanatophoric-dysplasia","sourceDocuments":[{"name":"Thanatophoric dysplasia","reviewed":"2006-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:26.772540+00:00","label":"Causes","pageSha256":"f9352722c86d145d7d15a18e11519701d614acec56deb89c2b38f49a508e391f","sourceUrl":"https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia"}],"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":"Thanatophoric dysplasia"},"schemaVersion":1}