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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Certain variants (sometimes called mutations) in the PPM1D gene cause Jansen-de Vries syndrome. The PPM1D gene provides instructions for making an enzyme called protein phosphatase 1D. This enzyme is present in many of the body&#x27;s tissues, including the developing brain.</p><p>Protein phosphatase 1D belongs to a group of enzymes called the PP2C phosphatases, which regulate cell development in response to environmental stress. In particular, protein phosphatase 1D helps return the cell to its normal state after the cell&#x27;s DNA has been damaged by environmental agents such as toxic chemicals or radiation.</p><p>In addition, protein phosphatase 1D is thought to play a role in regulating areas of tightly packed DNA called heterochromatin. Because gene expression is lower when DNA is tightly packed than when DNA is loosely packed, protein phosphatase 1D helps to turn off (silence) regions of DNA that are not needed.</p><p>The variants in the PPM1D gene that cause Jansen-de Vries syndrome typically disrupt the gene&#x27;s instructions, resulting in an enzyme that does not function as it should. Researchers believe that this enzyme is not able to reach the cell&#x27;s nucleus. Without enough functional protein phosphatase 1D, gene expression may be altered and cells are not able to fully recover from DNA damage. Researchers are trying to learn exactly how these gene variants affect the developing brain and other body systems to cause the signs and symptoms of Jansen-de Vries syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/jansen-de-vries-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Jansen-de Vries syndrome?"},{"bodyHtml":"<p>The signs and symptoms of Jansen-de Vries syndrome typically begin soon after birth. Affected infants often have low muscle tone (hypotonia) and feeding difficulties. Children with this disorder are often slow to develop speech and language skills, They may also be slow to acquire motor skills, such as standing or walking. People with Jansen-de Vries syndrome also tend to have intellectual disability, which can range from mild to severe.</p><p>Additional features seen in people with Jansen-de Vries syndrome may include short stature, small hands and feet, and differences in facial features. The facial features that are common in people with this condition include a broad forehead, thin upper lip, low-set ears that are rotated backwards, and downturned corners of the mouth.</p><p>Gastrointestinal problems, such as constipation, are also common in people with Jansen-de Vries syndrome. Many affected individuals experience recurrent episodes of nausea and vomiting (cyclic vomiting).</p><p>Though people with Jansen-de Vries syndrome tend to be very social with outgoing and friendly personalities, affected individuals may experience behavioral differences, such as anxiety disorders and attention-deficit hyperactivity disorder. Some people with Jansen-de Vries syndrome have autism-spectrum disorder, a developmental disorder that affects communication and social skills.</p><p>Other signs and symptoms of Jansen-de Vries syndrome include vision problems, an increased sensitivity to sound (hyperacusis), and a higher-than-normal pain threshold. Less commonly, people with Jansen-de Vries syndrome can have congenital heart defects. These may include openings in the wall (septum) that separates the upper or lower chambers of the heart (atrial or ventricular septal defects).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/jansen-de-vries-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"jansen-de-vries-syndrome","sourceDocuments":[{"name":"Jansen-de Vries syndrome","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:35.549353+00:00","label":"Causes","pageSha256":"2cd368c4cf5585ee62eace5cb29a4713be79d3fea3c4c3350719b6773b525ae6","sourceUrl":"https://medlineplus.gov/genetics/condition/jansen-de-vries-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/jansen-de-vries-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":"Jansen-de Vries syndrome"},"schemaVersion":1}