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Diseases

Genetic and Rare Diseases Information Center (GARD)

Jacobsen syndrome


Other Names for this Disease
  • Chromosome 11q deletion syndrome
  • Del(11)(q23.3)
  • Del(11)(qter)
  • Distal deletion 11q
  • Distal monosomy 11q
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Overview

Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment. Other features may include compulsive behavior; attention deficit-hyperactivity disorder (ADHD); congenital heart defects; short stature; and/or skeletal abnormalities. In most cases, the deletion that causes Jacobsen syndrome is not inherited and occurs randomly due to an error in cell division. In some cases, an affected person inherits the deletion from an unaffected parent with a balanced translocation. Treatment depends on the specific symptoms in each affected person.[1]
Last updated: 6/22/2015

References

  1. Jacobsen syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/jacobsen-syndrome.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Jacobsen syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
Other Names for this Disease
  • Chromosome 11q deletion syndrome
  • Del(11)(q23.3)
  • Del(11)(qter)
  • Distal deletion 11q
  • Distal monosomy 11q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.