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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis type 2.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Atelosteogenesis type 2?"},{"bodyHtml":"<p>The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"atelosteogenesis-type-2","sourceDocuments":[{"name":"Atelosteogenesis type 2","reviewed":"2020-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:34.120297+00:00","label":"Causes","pageSha256":"83e8cdc5837a4f68b821ae999dec8a826477fe1352e2f334faaf8eb85b024e68","sourceUrl":"https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2"}],"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":"Atelosteogenesis type 2"},"schemaVersion":1}