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

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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This page last updated: Sunday, November 25, 2007