Top : Genetic Disorders

Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome Alkaptonuria Alpha-1 Antitrypsin Deficiency Batten Beckwith-Wiedemann Syndrome Coffin Lowry Syndrome Costello Syndrome Cowden Syndrome Craniofrontonasal Dysplasia Crigler-Najjar Syndrome Cystic Fibrosis DiGeorge Syndrome Down Syndrome Dubowitz Syndrome Ectodermal Dysplasia Familial Hypercholesterolemia Fatty Oxidation Floating-Harbor Syndrome Fragile X Syndrome Glutaricaciduria Hailey-Hailey Disease Hemihypertrophy Hemochromatosis Hereditary Angioedema Hereditary Spastic Paraplegia Incontinentia Pigmenti Joubert Syndrome Klinefelter Syndrome Laurence-Moon Syndrome Lesch-Nyhan Syndrome Lowe Syndrome Machado-Joseph Mannosidosis

McArdles Meckel-Gruber Syndrome Mobius Syndrome Nail Patella Syndrome Noonan Syndrome Opitz Syndrome Organizations Pallister-Hall Syndrome Pallister Killian Mosaic Syndrome Personal Pages Popliteal Pterygium Syndrome Prader-Willi Syndrome Propionic Acidemia Proteus Syndrome Prune Belly Syndrome Pseudoxanthoma Elasticum Robinow Syndrome Russell Silver Syndrome Sanfilippo Syndrome Schizencephaly Shwachman Syndrome Smith-Magenis Syndrome Smith Lemli Opitz Syndrome Sotos Syndrome Sturge-Weber Syndrome Thrombocytopenia Absent Radius Syndrome Turner Syndrome Urea Cycle Usher Syndrome Velo-Cardio-Facial Syndrome Von Hippel-Lindau Waardenburg Syndrome Weaver Syndrome Williams Syndrome Xeroderma Pigmentosum Zellweger Syndrome

Genetic Disorders - site listings

Washington University in St Louis - Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.

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.

XLH Network - Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.

Genetic and Rare Conditions - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.

The Center For Jewish Genetics Disorders - A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.

A3243G.com - Information about a gene defect which causes a variety of diseases. Find a discussion forum and an newsletter.

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.

The UDGD Spot - Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.

Your Genes, Your Health - The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.

Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome - The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.

Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.

Primary Ciliary Dyskinesia - Information on a rare congenital disease.