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A Resource Guide for Children and Adults With Developmental Disabilities Living in King County

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Community Connections Home > Disabilities > About > Jacobsen's Syndrome


Specific Disabilities

Overview

Jacobsen's Syndrome (11q Deletion or 11q-) is a rare chrome disorder in which a portion of the 11th chromosome is missing. It affects about one in every 100,000 births. People who have this disorder may have heart problems, speech and language problems, specific facial characteristics, and mild to severe mental retardation, although many children with Jacobsen's are extremely capable.  

Causes

Jacobsen's Syndrome is a genetic disorder with no known cause.  It can be passed from either or both parents, or appear in an individual even if neither parent carries the gene abnormality that causes Jacobsen's.

Characteristics

Children who have Jacobsen's Syndrome may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation.  They often have ptosis (droopy eyes) and a broad bridge between the eyes, can have problems with kidneys, heart, (ear-)infections and blood platelets.  The mental level differs: there are children with mild till severe mental handicaps. This depends probably of length and place of the missing piece of the chromosome.

Diagnosis

If you or someone else thinks your child may be delayed, it is important to seek an assessment at as young an age as possible.  Children with Jacobsen's Syndrome and other developmental delays may benefit from early intervention services, therapies, educational interventions and other support services that may require a diagnosis in order to be eligible for those services.

Some other terms or diagnoses for Jacobsen's Syndrome (JBS) include:

Treatment

The physical and mental development of children with chromosome 11 anomalies differs from child to child.  However, as with any special needs child, the importance of early diagnosis and interventions in supporting the development of the child with Jacobsen's Syndrome cannot be understated.  Children with Jacobsen's may benefit from a variety of supports, interventions, therapies and services, depending on the impact of their disability on their development.

Other Information Resources

11q Research and Resource
http://web.ukonline.co.uk/c.jones/11q/contents.htm

European Chromosome 11Q network
http://www.11q.org
 


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Call the Arc of King County at: (206) 364-6337 or toll-free (in Washington only) 1-877-964-0600 8:30am - 4:30pm Monday - Friday
You may also use the online form or e-mail connections@arcofkingcounty.org

To request the addition/correction of a resource listing, to have your event included in the Community Calendar or Recreation calendar, or for other questions: 
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Listings in Community Connections and events on the Community Calendar come from a variety of host organizations and individuals.  For information about events, please contact the event sponsor.  The distribution of information  via Community Connections does not imply sponsorship or endorsement of any specific organization or event by The Arc of King County, the King County Developmental Disabilities Division, or affiliated entities.

Community Connections is made possible with support from the King County Developmental Disabilities Division and is hosted by The Arc of King County.

This page last updated:  Sunday, November 25, 2007

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