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Genetic and Rare Diseases Information Center (GARD)

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Emanuel syndrome


Other Names for this Disease
  • Caused by a t(11;22)(q23;q11.2) translocation
  • Supernumerary der(22),t(11;22) syndrome
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Your Question

I have a chance to work with a child who has Emanuel sydrome. What is a child with this capable of learning?   Is there a Web page that summarizes this syndrome and would be helpful to me?

Our Answer

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

Is there a Web page that summarizes this syndrome and would be helpful to me?

The following Web pages provide further details regarding Emanuel syndrome and may be helpful resources.

The Unique Rare Chromosome Disorder Support Group offers a detailed article on Emanuel syndrome. Click on the link above to view this information page.

Genetics Home Reference (GHR) contains a condition summary on Emanuel syndrome. Click on the link to go to GHR and review this summary.

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Last updated: 8/4/2010

What is Emanuel syndrome?

Emanuel syndrome is a chromosome disorder which results in problems in learning, growth, and development.[1] 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.[1] Click here to visit the Unique: Rare Chromosome Disorder Support Group Web site for further details regarding balanced and unbalanced 11;22 chromosome translocations.
Last updated: 8/4/2010

What is a child with Emanuel syndrome capable of learning?

Children with Emanuel syndrome usually have severe to profound intellectual disability, however severity of intellectual disability varies from case to case. Intellectual disability is a term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. There may be some things they cannot learn.[2]

To diagnose an intellectual disability, professionals look at the person's mental abilities (IQ) and his or her adaptive skills. Both of these are highlighted in the definition provided in the Individuals with Disabilities Education Act (IDEA). The IDEA is the federal law that guides how schools provide early intervention and special education and related services to children with disabilities.[2]

When children become school aged learning goals are individually set. School staff work with the child's parents to develop an Individualized Education Program and a Individualized Family Services Plan, which describes the child's unique needs and the services that have been designed to meet those needs. 

The National Dissemination Center for Children with Disabilities provides further information on this topic at the following links:

How to Write a Services Plan: http://www.nichcy.org/babies/IFSP/Pages/default.aspx 

The Short-and-Sweet IEP Overview: http://www.nichcy.org/EducateChildren/IEP/Pages/overview.aspx

The following organizations can provide you with further information as you seek to assist the child's family in setting and achieving his or her developmental and learning goals.

National Dissemination Center for Children with Disabilities
P.O. Box 1492
Washington, DC 20013
Toll free/TTY: (800) 695-0285
Fax: (202) 884-8441
E-mail: nichcy@aed.org
Web site: http://www.nichcy.org
Schools and Administrators Resource Page: http://www.nichcy.org/SchoolsAndAdministrators/Pages/Default.aspx

National Center for Medical Home Implementation
c/o American Academy of Pediatrics
141 Northwest Point Blvd
Elk Grove Village, IL 60007
Toll free: 800-433-9016 ext 7605
Phone 847-434-4000
Fax 847/228-5034 
E-mail: medical_home@aap.org
Web site: http://www.medicalhomeinfo.org/
Last updated: 8/4/2010

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