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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have a few questions related to Jacobsen syndrome. Do children with this condition have any issues related to fine and/or gross motor skills? Are there problems with speech or social skills? Do they always have intellectual disabilities? If so, what level of intellectual disability is expected?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Jacobsen syndrome?

Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development of motor skills and speech, cognitive impairment and learning difficulties, distinctive facial features, and a bleeding disorder called Paris-Trousseau syndrome. Many also have behavioral problems and attention deficit-hyperactivity disorder (ADHD).[1]
Last updated: 9/20/2010

Do children with Jacobsen syndrome have problems related to development of their fine and/or gross motor skills?

Most children with Jacobsen syndrome have delayed development of motor skills (such as sitting, standing, and walking).[1] They often have hypotonia (low muscle tone) and may require special orthopedic interventions to deal with problems such as club foot or tight foot and calf muscles. Hand use and hand-eye-coordination develop late, but with early intervention and occupational therapy, the great majority of children learn to feed and dress themselves, write and use a computer.[2]
Last updated: 2/1/2013

Do individuals with Jacobsen syndrome have problems related to speech development?

Speech in children with Jacobsen syndrome often emerges late. In general, the nature and severity of speech difficulties varies considerably between individuals. Many children with this condition need support in using alternative means of communication until they can express their needs and feelings. Some of the speech and language difficulties which may be faced include difficulty in pronouncing sounds and words (leading to word simplification), voice quality issues (a voice which is too low, hoarse or loud), and issues with resonance.[2]

The great majority of people with Jacobsen syndrome do learn to speak and some become fluent. However, this is not possible for all and many children understand (receptive language) at a higher level than they can talk (expressive language).[2]
Last updated: 9/20/2010

Do individuals with Jacobsen syndrome have problems related to social development?

Children with Jacobsen syndrome are more likely to have behavior disorders.[1][2][3] Some have challenging behavior and seek attention. Some have large tantrums, but these typically get better once language develops.[2] Some children with Jacobsen syndrome have compulsive behaviors (such as paper shredding).[1][2] Some children have been diagnosed with autism and many are diagnosed with attention deficit-hyperactivity disorder (ADHD).[1][2][3] In rare cases, more severe psychiatric disorders such as schizophrenia, or bipolar affective disorder have been reported.[3]

Children with Jacobsen syndrome often do better in structured environments and may relate better to adults than to children of their own age.[2]
Last updated: 2/1/2013

Do all individuals with Jacobsen syndrome have intellectual disability?

Most people with Jacobsen syndrome have mild to severe intellectual disability (97% of people). Intellectual development is normal or on the borderline in less than 3% of people with Jacobsen syndrome.[3][2]
Last updated: 2/1/2013

References
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.