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Sub-Categories in Genetic Disorders

Aarskog Syndrome (5) Aase Syndrome (2) Ablepharon-Macrostomia Syndrome (4) Acoustic Neuroma@ (11) Adie Syndrome@ (4) Adrenal Hyperplasia@ (17) Adrenoleukodystrophy@ (7) Aicardi Syndrome@ (7) Alagille Syndrome (5) Albinism@ (11) Alkaptonuria (5) Alopecia Areata@ (15) Alpha-1 Antitrypsin Deficiency (9) Alstrom Syndrome@ (5) Angelman Syndrome@ (15) Apert Syndrome@ (9) Arthrogryposis@ (83) Ataxia@ (11) Autism@ (636) Bardet-Biedl Syndrome@ (6) Barth Syndrome@ (4) Batten (7) Beckwith-Wiedemann Syndrome (9) Canavan@ (4) Celiac@ (41) Cerebrocostomandibular Syndrome@ (2) Charcot-Marie-Tooth Disease@ (6) Cleidocranial Dysplasia@ (4) Cockayne Syndrome@ (2) Coffin Lowry Syndrome (4) Congenital Cardiovascular Disorders@ (6) Congenital Heart Disease@ (43) Congenital Musculoskeletal Disorders@ (192) Congenital Neurological Disorders@ (96) Congenital Pain Insensitivity@ (2) Congenital Urological Disorders@ (25) Cornelia De Lange Syndrome@ (2) Costello Syndrome (2) Cowden Syndrome (3) Craniofrontonasal Dysplasia (3) Cri du Chat Syndrome@ (5) Crigler-Najjar Syndrome (3) Cystic Fibrosis (146) Cystinosis@ (3) DiGeorge Syndrome (4) Down Syndrome (88) Dubowitz Syndrome (3) Dwarfism@ (15) Ectodermal Dysplasia (6) Ehlers-Danlos Syndrome@ (28) Factor V Leiden@ (6) Familial Dysautonomia@ (8) Familial Erythromelalgia@ (4) Familial Hypercholesterolemia (2) Fanconi Anemia@ (15) Fatty Oxidation (4) Floating-Harbor Syndrome (4) Fragile X Syndrome (14) Friedreich Ataxia@ (4) Galactosemia@ (4) Gaucher's@ (14) Gene Therapy@ (64) Genetic Testing and Counseling@ (30) Genetics Education@ (22) Glutaricaciduria (3) Glycogen Storage Disease Type II@ (4) Hailey-Hailey Disease (1) Hallervorden-Spatz Syndrome@ (5) Hemihypertrophy (3) Hemochromatosis (18) Hemophilia@ (24) Hereditary Angioedema (5) Hereditary Spastic Paraplegia (6) Homocystinuria@ (3) Human Genetics@ (223) Huntington's@ (28) Hydrocephalus@ (49) Incontinentia Pigmenti (6) Jacobsen Syndrome@ (2)

Joubert Syndrome (6) Klinefelter Syndrome (11) Klippel-Feil Syndrome@ (4) Langer-Giedion Syndrome@ (2) Laurence-Moon Syndrome (3) Leigh's@ (4) Lesch-Nyhan Syndrome (2) Leukodystrophy@ (30) Lissencephaly@ (5) Lowe Syndrome (2) Lymphedema@ (45) Machado-Joseph (4) Mannosidosis (2) Marfan Syndrome@ (35) McArdle's (1) Meckel-Gruber Syndrome (4) Menkes' Syndrome@ (9) Mobius Syndrome (5) Multiple Hereditary Exostoses@ (6) Muscular Dystrophies@ (67) Myotonic Dystrophy@ (3) Nail Patella Syndrome (5) Narcolepsy@ (26) Neurofibromatosis@ (14) Niemann-Pick@ (4) Noonan Syndrome (8) Opitz Syndrome (6) Organizations (7) Osteogenesis Imperfecta@ (13) Pallister Killian Mosaic Syndrome (2) Pallister-Hall Syndrome (4) Personal Pages (9) Phenylketonuria@ (6) Polycystic Kidney@ (18) Popliteal Pterygium Syndrome (2) Porphyrias@ (17) Prader-Willi Syndrome (9) Progeria@ (9) Propionic Acidemia (3) Proteus Syndrome (3) Prune Belly Syndrome (2) Pseudoxanthoma Elasticum (2) Refsum's@ (3) Retinoblastoma@ (27) Rett's Syndrome@ (23) Robinow Syndrome (4) Rubinstein-Taybi Syndrome@ (4) Russell Silver Syndrome (2) Sanfilippo Syndrome (5) Schizencephaly (3) Shwachman Syndrome (6) Sickle Cell@ (18) Smith Lemli Opitz Syndrome (3) Smith-Magenis Syndrome (4) Soto's Syndrome (5) Spinal Muscular Atrophy@ (11) Stickler's Syndrome@ (4) Sturge-Weber Syndrome (3) Support Groups@ (29) Tay-Sachs@ (4) Thalassemia@ (19) Thrombocytopenia Absent Radius Syndrome (3) Tourette Syndrome@ (78) Treacher Collins Syndrome@ (7) Tuberous Sclerosis@ (15) Turner Syndrome (11) Tyrosinemia@ (3) Urea Cycle (2) Usher Syndrome (2) VATER Syndrome@ (5) Velo-Cardio-Facial Syndrome (4) Von Hippel-Lindau (5) WAGR Syndrome@ (4) Waardenburg Syndrome (2) Weaver Syndrome (2) Williams Syndrome (9) Wilson's Disease@ (11) Xeroderma Pigmentosum (7) Zellweger Syndrome (4)

Web Sites in Category Genetic Disorders

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.

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.

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 Site - 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.

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.

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.

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

Related Categories:

Health > Conditions and Diseases > Rare Disorders
Health > Conditions and Diseases > Congenital Anomalies

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