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Home > Diseases and Conditions > Genetic Disorders
Genetic Disorders

Directory Categories
Alpha-1 Antitrypsin Deficiency
Cystic Fibrosis
Down Syndrome
Ectodermal Dysplasia
Fragile X Syndrome
Hereditary Spastic Paraplegia
Klinefelter Syndrome
Opitz Syndrome
Personal Pages
Prader-Willi Syndrome
Sanfilippo Syndrome
Shwachman Syndrome
Turner Syndrome
Urea Cycle
Williams Syndrome
Xeroderma Pigmentosum

Website Listings
Alagille Syndrome Alliance
Worldwide support network for people who care about people with alagille syndrome.

Canadian Association of Genetic Counsellors
works to establish minimum standards of practice, to encourage professional growth, and to increase recognition of the genetic counselling profession in Canada.

Chromosome 9P- Network
international not-for-profit organization dedicated to educating and bringing together families with children who have Alfi's syndrome.

Costello Kids
Official site of the International Costello Syndrome Support Group. Includes medical information, photographs and videos, therapy ideas, news, and links.

Fatty Oxidation Disorders
Informational site provides details on newborn screening, on numerous diseases, medical information and support resources such as a newsletter and email List.

Gene Clinics
Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

Genetic Alliance
provides a global resource for genetics information including a directory of condition-specific lay advocacy member groups.

Genetic Health
offers general information on conditions, DNA mutations, genetic testing, and research participation.

Genetic Interest Group
national U.K. alliance of organizations which support children, families, and individuals affected by genetic disorders and genetic diseases.

Hereditary Angioedema Support Group
A non profit Organization dedicated to those families that are touched by a rare blood disease known as Hereditary Angioedema

Hereditary Disease Foundation
nonprofit, basic science organization dedicated to the cure of genetic disease.

IMMD Institute of Medical Molecular Diagnostics Ltd.
The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.

International Joseph Disease Foundation
Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease.

International Society for Mannosidosis & Related Diseases
a nonprofit organization advocating for families and caregivers.

IOGA: International Organization of Glutaric Acidemia
Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links.

Joubert Syndrome Foundation
Organization, conferences and contact details. FAQs about the disease, information center and resources.

Laurence Moon Bardet Biedl Society
Fully accessible site for people with LMBB, their families, friends, carers and interested professionals. Opinions, news, views, research, updates, and contact details.

Lowe Syndrome Association
Information about this disease and the international organization that deals with it.

Mucolipidosis IV Foundation
information forum on ML$, a rare genetic disease.

Nail Patella Syndrome Worldwide
The home page of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. Includes information on the syndrome and the work of the organization.

National Association for Psuedoxanthoma Elasticum (NAPE)
support group offering information on the disorder, and a membership-based newsletter.

National Dysautonomia Research Foundation
offers information and support for people affected by disorders of the autonomic nervous system.

National Society of Genetic Counselors (NSGC)
a leading voice, authority, and advocate for the genetic counseling profession.

Pallister-Hall Syndrome: A Layman's Guide
For PHS patients, their care givers, and medical practitioners.

Pallister-Killian Syndrome
information and support for this rare chromosomal disorder.

Proteus Syndrome Foundation
Support and education for families and professionals. Includes abstracts, brochures, glossary, links and newsletters.

PXE International
The comprehensive source for pseudoxanthoma elasticum research and world wide activities.

Robinow Syndrome Foundation
Details about the organization as well as the disease. Includes general information, a survey, newsletter and photos.

Sotos Syndrome Support Association of Canada
Provides educational and emotional support, and current information. English and French.

Spiral Notebook: Carnitine Palmitoyl Transferase Deficiency
a newsletter about a rare genetic disorder of fat metabolism that causes muscle breakdown.

The Alkaptonuria Society
An information and support network for those people diagnosed with Alkaptonuria. Includes discussions, articles and related resources.

The Noonan Syndrome Support Group
Information about this organization as well the disease itself. Offers news, events, a survey, a newsletter and further resources.

The Stennis Foundation
Raising public awareness regarding Metachromatic Leukodystrophy (MLD) as well as funds for MLD research.

The Sturge-Weber Foundation
A support site for individuals and professionals dealing with Sturge-Weber syndrome, port-wine stains and Klippel Trenaunay. The Foundation acts as clearing house for information and a focus for research.

Velo-Cardio-Facial Syndrome Educational Foundation
Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information.

Xeroderma Pigmentosum Society
provides information on the disease also known as XP.

Your Genes, Your Health
a multimedia guide to specific individual genetic disorders from the Dolan DNA Learning Center at Cold Spring Harbor Laboratory.

Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles abou


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Information contained herein is deemed accurate and correct, but no warranty is implied or given. The information contained above is intended for general reference purposes only. It is not a substitute for professional medical advice or a medical exam.
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