Children with Disabilities, Fifth Edition
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Resources for Children with Disabilities
Developed by Margaret Rose

Genetic Syndromes and Inborn Errors of Metabolism

There are many support organizations and networks for children with various syndromes and inborn errors of metabolism and their families. A representative sample is listed here. For a more complete listing, contact the National Organization for Rare Disorders (NORD).

The American Society of Human Genetics
9650 Rockville Pike
Bethesda, MD 20814-3998
Phone: 866-486-4363
Fax: 301-530-7079

Organization for professionals specializing in human genetics. Publishes The American Journal of Human Genetics and other resources.

Arnold-Chiari Family Network
c/o Kevin and Maureen Walsh
67 Spring Street
Weymouth, MA 02188
Phone: 617-337-2368

Informal family support network for individuals with Chiari I and Chiari II malformations and their families. Literature and occasional newsletter provided on request.

Post Office Box 5192
Sonora, CA 95370
Phone: 209-928-3688

Publishes a semiannual newsletter that provides lists of parents, physicians, and experienced medical centers that are concerned with people with arthrogryposis multiplex congenita.

Cornelia de Lange Syndrome Foundation, Inc.
302 West Main Street, #100
Avon, CT 06001
Phone: 800-223-8355
Fax: 860-676-8337

Supports parents and children affected by de Lange syndrome, encourages research, and disseminates information to increase public awareness through a newsletter and informational pamphlet.

5p– Society
Post Office Box 268
Lakewood, CA 90714
Phone: 888-970-0777
Fax: 714-890-9112

Family support and information group for parents, grandparents, and guardians of individuals with 5p– (cri-du-chat) syndrome. Publishes a newsletter and sponsors an annual meeting.

Phone: 206-527-5742 (GeneTests); 206-221-4674 (GeneClinics)

Free medical genetics information resource developed for physicians, other health care providers, researchers, and the public. Provides GeneReviews, peer-reviewed articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients; international directories for genetic testing laboratories and genetic and prenatal diagnosis clinics; and various educational materials.

Genetic Alliance, Inc.
4301 Connecticut Avenue NW
Suite 404
Washington, DC 20008-2304
Phone: 800-336-4363
Fax: 202-966-8553

International organization of families, health professionals, and genetic organizations dedicated to enhancing the lives of individuals living with genetic conditions through the provision of education, policy, and information services. Helpline staff are available to address questions about genetics and to connect callers with support groups and informational resources.

Genetics Society of America
9650 Rockville Pike
Bethesda, MD 20814-3998
Phone: 866-486-4363
Fax: 301-530-7079

Professional organization that aims to bring together genetic investigators and provide a forum for sharing research findings. Cooperates in the organization of an international congress held every five years under the auspices of the International Genetics Federation. Publishes the journal GENETICS and other resources.

Howard University Center for Sickle Cell Disease
2121 Georgia Avenue NW
Washington, DC 20059
Phone: 202-806-7930
Fax: 202-806-4517

Screening and counseling for sickle cell disease; provides services to both adults and children, including medical treatment and psychosocial intervention.

Little People of America, Inc.
Post Office Box 745
Lubbock, TX 79408
Phone: 888-572-2001 (English and Spanish helpline)

Nationwide organization dedicated to helping people of short stature. Provides fellowship, moral support, and information to “little people,” or individuals with dwarfism. The toll-free helpline provides information on organizations, products and services, and doctors in the caller’s area.

National Gaucher Foundation
5410 Edson Lane
Suite 260
Rockville, MD 20852
Phone: 800-428-2437
Fax: 301-816-1516

Publishes quarterly newsletter, operates support groups and chapters, provides referrals to organizations for appropriate services, and funds research on Gaucher disease.

The National Neurofibromatosis Foundation, Inc.
95 Pine Street
16th Floor
New York, NY 10005
Phone: 800-323-7938
Fax: 212-747-0004

Supplies information to lay people and professionals and offers genetic counseling and support groups throughout the United States.

National Organization for Rare Disorders (NORD)
Post Office Box 8923
New Fairfield, CT 06812-8923
Phone: 203-746-6518
Fax: 203-746-6481

Nonprofit group of voluntary health organizations serving people with rare disorders and disabilities. Dedicated to the identification, treatment, and cure of rare disorders through education, advocacy, research, and service.

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Brighton, MA, 02135
Phone: 800-906-8723
Fax: 617-277-0134

Promotes genetic screening programs nationally; has updated listing of Tay-Sachs disease prevention centers in a number of countries; provides educational literature to general public and professionals; and coordinates a peer group support for parents.

National Urea Cycle Disorders Foundation
4841 Hill Street
La Cañada, CA 91011

Provides information and support for families. Supports and stimulates medical research and increased awareness by the public and the legislators of issues related to urea cycle disorders.

Online Mendelian Inheritance in Man (OMIM)

Web site database of human genes and genetic disorders with textual information, pictures, and reference information.

Osteogenesis Imperfecta Foundation, Inc.
804 West Diamond Avenue
Suite 210
Gaithersburg, MD 20878
Phone: 800-981-2663
Fax: 301-947-0456

Supports research on osteogenesis imperfecta and provides information to those with this disorder, their families, and other interested people.

Prader-Willi Syndrome Association
5700 Midnight Pass Road
Sarasota, FL 34242
Phone: 800-926-4797
Fax: 941-312-0142

National organization that serves as a clearinghouse for information on Prader-Willi syndrome; shares information with parents, professionals, and other interested people.

Sickle Cell Disease Association of America, Inc.
200 Corporate Pointe
Suite 495
Culver City, CA 90230-8727
Phone: 800-421-8453
Fax: 310-215-3722

Provides education, screening, genetic counseling, technical assistance, tutorial services, vocational rehabilitation, and research support in the United States and Canada.

Support Organization for Trisomy 18, 13, and Related Disorders (SOFT)
2982 South Union Street
Rochester, NY 14624
Phone: 800-716-7638 (English); 631-226-3986 (Spanish)

Chapters in most states provide support and family packages with a newsletter and appropriate literature underscoring the common problems for children with trisomy 13 or trisomy 18. Holds yearly conference for families and professionals.

Tourette Syndrome Association
42-40 Bell Boulevard
Bayside, NY 11361
Phone: 718-224-2999
Fax: 718-279-9596

Offers information, referral, advocacy, education, research, and self-help groups to those affected by Tourette syndrome.

Treacher Collins Foundation
Post Office Box 683
Norwich, VT 05055

Resource and referral for families, individuals, and professionals who are interested in developing and sharing knowledge and experience about Treacher Collins syndrome and related disorders. Publishes newsletter and makes print and videotape resources available by loan.

Tuberous Sclerosis Alliance
801 Roeder Road
Suite 750
Silver Spring, MD 20910
Phone: 800-225-6872
Fax: 301-562-9870

Offers public information about manifestations of the disease to newly diagnosed individuals, their families, and interested professionals. Referrals are made to support groups located in most states. Funds research through membership fees and donations.

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