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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Potocki-Shaffer syndrome is caused by a deletion of genetic material from the short (p) arm of chromosome 11 at a position designated 11p11.2. Because of this change, Potocki-Shaffer syndrome is also known as proximal 11p deletion syndrome. The term &quot;proximal&quot; means that the missing piece is near the center of the chromosome. The size of the deletion varies among affected individuals. Studies suggest that an individual would need a deletion of at least 2.1 million DNA building blocks (base pairs), also written as 2.1 megabases (Mb), to develop all of the features associated with the condition. The loss of multiple genes within the deleted region causes the signs and symptoms of Potocki-Shaffer syndrome.</p><p>In particular, the deletion of the ALX4, PHF21A, and EXT2 genes is associated with several of the characteristic features of Potocki-Shaffer syndrome. The ALX4 and PHF21A proteins are involved in regulating the activity of genes, particularly those that play a role in the development of the brain, skull, and face. The EXT2 gene provides instructions for making a protein that modifies another protein that helps control the formation and growth of bones.</p><p>The deletion of the ALX4 gene causes the enlarged parietal foramina found in people with this condition. In addition, the loss of the PHF21A gene is the cause of intellectual disabilities and distinctive facial features in affected individuals. The deletion of the EXT2 gene is associated with the development of multiple osteochondromas. The loss of additional genes in the deleted region likely contributes to the other features of Potocki-Shaffer syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Potocki-Shaffer syndrome?"},{"bodyHtml":"<p>People with Potocki-Shaffer syndrome have enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. Openings in the parietal bones are normal during fetal development, but they usually close before birth. In people with this condition, the parietal foramina are larger than normal and may remain open after birth. Affected individuals often have a wide, short skull (brachycephaly). Their head size may be normal or unusually small.</p><p>Most people with Potocki-Shaffer syndrome have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous.</p><p>Other features of Potocki-Shaffer syndrome include intellectual disabilities, recurrent seizures (epilepsy), and delayed development of speech and motor skills (such as sitting and walking).</p><p>Many people with Potocki-Shaffer syndrome have distinctive facial features, such as a broad and tall forehead, a prominent bridge of the nose, a narrow distance between the nose and upper lip (a short philtrum), a short nose with a wide tip, and a downturned mouth.</p><p>Less commonly, Potocki-Shaffer syndrome causes vision problems; additional skeletal abnormalities; and defects in the heart, kidneys, and urinary tract.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"potocki-shaffer-syndrome","sourceDocuments":[{"name":"Potocki-Shaffer syndrome","reviewed":"2026-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:20.365175+00:00","label":"Causes","pageSha256":"678a245d5326eb1f3930de8cab6229b4ecc8c44bb93791ea780294d9e4393288","sourceUrl":"https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/potocki-shaffer-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":"Potocki-Shaffer syndrome"},"schemaVersion":1}