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Genetic and Rare Diseases Information Center (GARD)

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Jacobsen syndrome

Other Names for this Disease
  • Chromosome 11q deletion syndrome
  • JBS
  • Partial 11q monosomy syndrome
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How might Jacobsen syndrome be treated?

There is no cure for Jacobsen syndrome; treatment generally focuses on the specific signs and symptoms present in each individual. Treatment may require the coordinated efforts of a team of various specialists.

Individuals with low platelet counts (thrombocytopenia) should be monitored regularly. Blood or platelet transfusions may be necessary before or during surgeries. Surgery may be needed to repair various malformations associated with the condition. Complications of certain congenital heart defects (such as rapid heartbeat or fluid accumulation) may be treated with a variety of drugs. Respiratory infections should be treated vigorously and early. Because of the risk of bacterial infection of the heart lining (endocarditis) and valves, those with certain heart defects may need antibiotics before any surgery.

Eye abnormalities may be treated with surgery, glasses, contact lenses, and/or other measures to improve visual problems. Abnormalities of the joints, tendons, muscles, and bones may be treated by orthopedic techniques, potentially in combination with surgery. Physical therapy may help improve coordination and mobility. Early intervention is important to ensure that affected children reach their full potential.[1]
Last updated: 5/30/2012

  1. Chromosome 11, Partial Monosomy 11q. NORD. April 26, 2012; Accessed 5/30/2012.