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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Jacobsen syndrome is caused by a deletion of genetic material from chromosome 11. Usually, the deletion occurs at the end of the long arm of the chromosome. Less commonly, the deletion occurs within the long arm of the chromosome, which is known as an interstitial deletion. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (base pairs). Larger deletions tend to cause more severe signs and symptoms than smaller deletions.</p><p>The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. The deleted region can contain from about 170 to more than 340 genes. Genes in this region appear to be critical for the normal development of many parts of the body, including the brain, facial features, and heart. Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/jacobsen-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Jacobsen syndrome?"},{"bodyHtml":"<p>The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals experience delayed development of certain skills, including speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention-deficit/hyperactivity disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorder, which is characterized by impaired communication and socialization skills.</p><p>Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance.</p><p>More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cells that are necessary for blood clotting.</p><p>Other features of Jacobsen syndrome can include heart defects, such as underdevelopment of the left side of the heart (hypoplastic left heart syndrome); feeding difficulties in infancy; short stature; frequent ear and sinus infections; and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia.</p><p>The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood. Complex heart defects are a leading cause of death in people with Jacobsen syndrome. Bleeding episodes and infections can also be life-threatening in people with Jacobsen syndrome.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/jacobsen-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"jacobsen-syndrome","sourceDocuments":[{"name":"Jacobsen syndrome","reviewed":"2023-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:34.973624+00:00","label":"Causes","pageSha256":"7c4303a6c351f827ad13f7b440a706eca07e12ad2146a4946d2167cb9b543bef","sourceUrl":"https://medlineplus.gov/genetics/condition/jacobsen-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/jacobsen-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":"Jacobsen syndrome"},"schemaVersion":1}