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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Potocki-Lupski syndrome is caused by a duplication of genetic material on the short (p) arm of chromosome 17 at 17p11.2. As a result, Potocki-Lupski syndrome is also known as 17p11.2 duplication syndrome. In about two-thirds of affected individuals, the duplicated segment includes approximately 3.7 million DNA building blocks (base pairs), also written as 3.7 megabases (Mb). In the remaining cases, the duplication is larger or smaller. All of the duplications known to cause Potocki-Lupski syndrome contain the RAI1 gene. Studies suggest that having an extra copy of the RAI1 gene is responsible for many of the characteristic features of the condition.</p><p>The RAI1 gene provides instructions for making a protein that helps regulate the activity (expression) of other genes. This protein appears to play a role in the developing brain and helps control the expression of several genes involved in daily (circadian) rhythms, such as the sleep-wake cycle. Studies suggest that the duplication leads to an increase in the amount of RAI1 protein that is produced, which disrupts the expression of genes that influence circadian rhythms. These changes likely account for the sleep disturbances that occur with Potocki-Lupski syndrome. Too much RAI1 protein may also disrupt brain development and contribute to the neurological and behavioral features of this condition. It is unclear exactly how an extra copy of the RAI1 gene causes all of the features of this condition. Extra copies of other genes in the duplicated region likely also contribute to the specific signs and symptoms.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Potocki-Lupski syndrome?"},{"bodyHtml":"<p>Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia) that lead to feeding problems. Some affected babies do not grow and gain weight at the expected rate (described as failure to thrive), and children with this condition tend to be shorter and weigh less than their peers. About 40 percent of babies with Potocki-Lupski syndrome are born with a heart defect, which in some cases is life-threatening.</p><p>Babies and children with Potocki-Lupski syndrome have delayed development, including delayed speech and language skills and gross motor skills such sitting, standing, and walking. As they get older, affected individuals have intellectual disability, which is usually mild to moderate, and ongoing difficulties with speech. Potocki-Lupski syndrome is also associated with behavioral problems, which can include attention problems, hyperactivity, compulsive or impulsive behaviors, and anxiety. Many people with this condition have charateristics of autism spectrum disorder, which affects social interaction and communication.</p><p>Other signs and symptoms of Potocki-Lupski syndrome can include vision and hearing problems, dental and skeletal abnormalities, and abnormal kidney development and function. Many affected individuals have problems with sleep, including short pauses in breathing during sleep (sleep apnea) and trouble falling asleep and staying asleep. The condition can also have subtle differences in facial features, including outside corners of the eyes that point downward (down-slanting palpebral fissures), a triangular face with a broad forehead and a small jaw (micrognathia), and widely spaced eyes (hypertelorism).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"potocki-lupski-syndrome","sourceDocuments":[{"name":"Potocki-Lupski syndrome","reviewed":"2017-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:20.073788+00:00","label":"Causes","pageSha256":"d37541a81a9d6a771be1913da2562c5748384b9f4f6a4347ea90ef50da4efaa8","sourceUrl":"https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/potocki-lupski-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-Lupski syndrome"},"schemaVersion":1}