Genetic Disorders
Home>Conditions_and_Diseases>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   
McArdle's   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   Soto's 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   
Web Pages
Dr. Greene's HouseCalls
A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.
The UDGD Spot
Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
Primary Ciliary Dyskinesia
Information on a rare congenital disease.
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 and Rare Conditions Site
Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
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 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.
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.
Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
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.
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.

The origins of the Medpage Directory is based on the Open Directory