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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>3p deletion syndrome is caused by deletion of the end of the small (p) arm of chromosome 3. The size of the deletion varies among affected individuals, ranging from approximately 150,000 DNA building blocks (150 kilobases or 150 kb) to 11 million DNA building blocks (11 megabases or 11 Mb). The deletion can include between 4 and 71 known genes. In some individuals, the deletion involves material near the end of the chromosome but does not include the tip (the telomere).</p><p>The signs and symptoms related to 3p deletion syndrome result from the loss of genes in the 3p region. It is difficult to determine which genes may be responsible for which specific features of 3p deletion syndrome because of the variability in both the size of the deletion and in the signs and symptoms of the condition among affected individuals. Multiple genes at the end of chromosome 3 appear to play a role in neurological development, but because not all people with 3p deletion syndrome are missing the same genes, it is difficult to pinpoint which ones influence the cognitive symptoms. It is likely that the loss of multiple genes contribute to the different physical abnormalities.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes 3p deletion syndrome?"},{"bodyHtml":"<p>Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. Most have delayed development of language skills as well as motor skills such as crawling and walking. While affected individuals learn to walk in childhood, their language ability usually remains limited. Some individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) or features of autism spectrum disorders, which are conditions characterized by impaired communication and social interaction.</p><p>The physical signs and symptoms of 3p deletion syndrome vary greatly. Many affected individuals have slow growth, an abnormally small head (microcephaly), a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and widely spaced eyes (hypertelorism). Other frequent features include skin folds covering the inner corner of the eyes (epicanthal folds), extra fingers or toes (polydactyly), and an opening in the roof of the mouth (cleft palate). Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/3p-deletion-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"3p-deletion-syndrome","sourceDocuments":[{"name":"3p deletion syndrome","reviewed":"2016-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:56.215722+00:00","label":"Causes","pageSha256":"403c4f1afe9979afb373833f3df8b7c118408bfc0787278f75ca90b06ac94043","sourceUrl":"https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/3p-deletion-syndrome"}],"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":"3p deletion syndrome"},"schemaVersion":1}