Emanuel syndrome

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.

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.

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 link: Special Education

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
You can also search relevant topics at the following link: Resources

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/

We are not aware of an association between Emanuel syndrome and spinal tumors. To our knowledge, Emanuel syndrome has not been linked specifically to the development of tumors anywhere in the body.

Female carriers of a balanced translocation involving chromosomes 11 and 22, who are at risk for having a child with Emanuel syndrome, may be at increased risk for premenopausal breast cancer. However, this possible association needs further study. Larger studies are also needed to investigate a potential link between this balanced translocation and an increased risk for esophageal cancer, melanoma, and/or renal cell carcinoma. Because of these findings, increased vigilance with respect to sun protection, investigation of skin lesions in balanced translocation carriers, and close attention to possible cancer symptoms as per the general population have been suggested.

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.

Genetics Home Reference (GHR) contains a condition summary on Emanuel syndrome.

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.

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