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Home : Diseases and Conditions : Genetic Disorders

Alpha-1 Antitrypsin Deficiency (4) Organizations (12)
Batten (4) Personal Pages (3)
Cystic Fibrosis (38) Prader-Willi Syndrome (4)
Down Syndrome (40) Sanfilippo Syndrome (3)
Ectodermal Dysplasia (3) Shwachman Syndrome (2)
Fragile X Syndrome (5) Turner Syndrome (2)
Hemochromatosis (7) Urea Cycle (2)
Hereditary Spastic Paraplegia (2) Williams Syndrome (2)
Klinefelter Syndrome (3) Xeroderma Pigmentosum (3)
Opitz Syndrome (1)
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 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.
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.
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.
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.
Rett Syndrome Association (UK)
The Rett Syndrome Association UK, a registered charity, is dedicated to the support of girls and women, together with their families and carers, suffering from this complex neurological disorder, which affects them throughout their lives. Sufferers are profoundly and multiply disabled.
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