Webum > Health > Conditions and Diseases > Genetic Disorders Gene Therapy@ Genetic Testing and Counseling@ Genetics Education@ Human Genetics@ Organizations Personal Pages Support Groups@ Congenital Cardiovascular Disorders@ Congenital Heart Disease@ Congenital Musculoskeletal Disorders@ Congenital Neurological Disorders@ Congenital Urological Disorders@ Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Acoustic Neuroma@ Adie Syndrome@ Adrenal Hyperplasia@ Adrenoleukodystrophy@ Aicardi Syndrome@ Alagille Syndrome Albinism@ Alkaptonuria Alopecia Areata@ Alpha-1 Antitrypsin Deficiency Alstrom Syndrome@ Angelman Syndrome@ Apert Syndrome@ Arthrogryposis@ Ataxia@ Autism@ Bardet-Biedl Syndrome@ Barth Syndrome@ Batten Beckwith-Wiedemann Syndrome Canavan@ Celiac@ Cerebrocostomandibular Syndrome@ Charcot-Marie-Tooth Disease@ Cleidocranial Dysplasia@ Cockayne Syndrome@ Coffin Lowry Syndrome Congenital Pain Insensitivity@ Cornelia De Lange Syndrome@ Costello Syndrome Cowden Syndrome Craniofrontonasal Dysplasia Cri du Chat Syndrome@ Crigler-Najjar Syndrome Cystic Fibrosis Cystinosis@ DiGeorge Syndrome Down Syndrome Dubowitz Syndrome Dwarfism@ Ectodermal Dysplasia Ehlers-Danlos Syndrome@ Factor V Leiden@ Familial Dysautonomia@ Familial Erythromelalgia@ Familial Hypercholesterolemia Fanconi Anemia@ Fatty Oxidation Floating-Harbor Syndrome Fragile X Syndrome Friedreich Ataxia@ Galactosemia@ Gaucher's@ Glutaricaciduria Glycogen Storage Disease Type II@ Hailey-Hailey Disease Hallervorden-Spatz Syndrome@ Hemihypertrophy Hemochromatosis Hemophilia@ Hereditary Angioedema Hereditary Spastic Paraplegia Homocystinuria@ Huntington's@ Hydrocephalus@ Incontinentia Pigmenti Jacobsen Syndrome@ Joubert Syndrome Klinefelter Syndrome Klippel-Feil Syndrome@ Langer-Giedion Syndrome@ Laurence-Moon Syndrome Leigh's@ Lesch-Nyhan Syndrome Leukodystrophy@ Lissencephaly@ Lowe Syndrome Lymphedema@ Machado-Joseph Mannosidosis Marfan Syndrome@ McArdle's Meckel-Gruber Syndrome Menkes' Syndrome@ Mobius Syndrome Multiple Hereditary Exostoses@ Muscular Dystrophies@ Myotonic Dystrophy@ Nail Patella Syndrome Narcolepsy@ Neurofibromatosis@ Niemann-Pick@ Noonan Syndrome Opitz Syndrome Osteogenesis Imperfecta@ Pallister Killian Mosaic Syndrome Pallister-Hall Syndrome Phenylketonuria@ Polycystic Kidney@ Popliteal Pterygium Syndrome Porphyrias@ Prader-Willi Syndrome Progeria@ Propionic Acidemia Proteus Syndrome Prune Belly Syndrome Pseudoxanthoma Elasticum Refsum's@ Retinoblastoma@ Rett's Syndrome@ Robinow Syndrome Rubinstein-Taybi Syndrome@ Russell Silver Syndrome Sanfilippo Syndrome Schizencephaly Shwachman Syndrome Sickle Cell@ Smith Lemli Opitz Syndrome Smith-Magenis Syndrome Soto's Syndrome Spinal Muscular Atrophy@ Stickler's Syndrome@ Sturge-Weber Syndrome Tay-Sachs@ Thalassemia@ Thrombocytopenia Absent Radius Syndrome Tourette Syndrome@ Treacher Collins Syndrome@ Tuberous Sclerosis@ Turner Syndrome Tyrosinemia@ Urea Cycle Usher Syndrome VATER Syndrome@ Velo-Cardio-Facial Syndrome Von Hippel-Lindau Waardenburg Syndrome WAGR Syndrome@ Weaver Syndrome Williams Syndrome Wilson's Disease@ Xeroderma Pigmentosum Zellweger Syndrome See also Health > Conditions and Diseases > Congenital Anomalies Health > Conditions and Diseases > Rare 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. 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