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Diseases

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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Symptoms

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What are the signs and symptoms of Jacobsen syndrome?

The signs and symptoms of Jacobsen syndrome vary among people with this condition. Most affected individuals have delayed development, including the development of motor skills (such as sitting, standing, and walking) and speech. 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 being easily distractd. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD).[1]

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.[1]

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 cell fragments that are necessary for blood clotting.[1]

Other features of Jacobsen syndrome can include heart defects, 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. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood.[1]

Last updated: 2/1/2013

References
  1. Jacobsen syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/jacobsen-syndrome. Accessed 9/20/2010.


Other Names for this Disease
  • Chromosome 11q deletion syndrome
  • JBS
  • Partial 11q monosomy syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.