Emanuel Syndrome

Common Name(s)

Emanuel Syndrome

Emanuel syndrome is a chromosome disorder which results in problems in learning, growth, and development. Signs and symptoms vary but can include weak muscle tone and failure to thrive in infancy, developmental delays, severe to profound intellectual disability, small head size, distinctive facial features, small lower jaw, ear abnormalities (e.g., preauricular pits or sinuses), high arched palate (roof of mouth), cleft palate, heart defects, kidney defects, and genital abnormalities (in males). Emanuel syndrome is caused by having extra chromosome 11 and chromosome 22 material in each cell. This condition is usually inherited from a parent who carries a balanced translocation between chromosomes 11 and 22. Click here to visit the Unique: Rare Chromosome Disorder Support Group Web site for further details regarding balanced and unbalanced 11;22 chromosome translocations.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Emanuel Syndrome" for support, advocacy or research.

Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

http://www.c22c.org

Last Updated: 24 Oct 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Emanuel Syndrome" for support, advocacy or research.

Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

http://www.c22c.org

Last Updated: 24 Oct 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Emanuel Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
 

Author(s): Melissa T Carter, Stephanie A St Pierre, Elaine H Zackai, Beverly S Emanuel, Kym M Boycott

Journal: Am. J. Med. Genet. A. 2009 Aug;149A(8):1712-21.

 

Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental ...

Last Updated: 30 Jul 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Emanuel Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.