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Genetic Disorders

Sub-categories: 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 | Meckel-Gruber Syndrome | Mobius Syndrome | Nail Patella Syndrome | Noonan Syndrome | Opitz Syndrome | Organizations | Pallister Killian Mosaic Syndrome | Pallister-Hall 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 Lemli Opitz Syndrome | Smith-Magenis 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

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.

A3243G
Explains a gene defect which causes several diseases including Maternally Inherited Diabetes with Deafness. Features a newsletter, forum and definitions.

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.

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.

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

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.

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.

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.

Primary Ciliary Dyskinesia
Information on a rare congenital disease.

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

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