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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, are also involved in the condition. Doctors speculate that nongenetic factors, for example conditions during pregnancy that restrict growth of the jaw, may cause some cases of isolated Pierre Robin sequence.</p><p>The SOX9 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton, including the mandible.</p><p>The genetic changes near the SOX9 gene that are associated with isolated Pierre Robin sequence are thought to disrupt regions of DNA called enhancers, which normally regulate the activity of the SOX9 gene. These changes reduce SOX9 gene activity. As a result, the SOX9 protein cannot properly control the genes essential for normal development of the lower jaw, causing micrognathia, and consequently, glossoptosis, airway obstruction, and, often, cleft palate.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Isolated Pierre Robin sequence?"},{"bodyHtml":"<p>Some people have the features of Pierre Robin sequence as part of a syndrome that affects other organs and tissues in the body, such as Stickler syndrome or campomelic dysplasia. These instances are described as syndromic. When Pierre Robin sequence occurs by itself, it is described as nonsyndromic or isolated. Approximately 20 to 40 percent of cases of Pierre Robin sequence are isolated.</p><p>This condition is described as a &quot;sequence&quot; because one of its features, underdevelopment of the lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue, and the abnormally positioned tongue can block the airways. In addition, micrognathia and glossoptosis affect formation of the palate during development before birth, which often leads to cleft palate.</p><p>The combination of features characteristic of Pierre Robin sequence can lead to difficulty breathing and problems eating early in life. As a result, some affected babies have an inability to grow and gain weight at the expected rate (failure to thrive). In some children with Pierre Robin sequence, growth of the mandible catches up, and as adults these individuals have normal-sized chins.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"isolated-pierre-robin-sequence","sourceDocuments":[{"name":"Isolated Pierre Robin sequence","reviewed":"2016-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:33.646408+00:00","label":"Causes","pageSha256":"0be814a8fedab01a84db799c67097ff63f216ac437d523fe2b0c01f281562edf","sourceUrl":"https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence"}],"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":"Isolated Pierre Robin sequence"},"schemaVersion":1}