Lukol Directory: Health: Conditions and Diseases: Genetic Disorders

Genetic Conditions Rare Conditions Lay advocacy and support groups, information on genetic conditions birth defects for professionals, educators, and individuals. http://www.kumc.edu/gec/support/ 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. http://www.jewishgeneticscenter.org/ 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. http://www.xlhnetwork.org 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. http://www.immd.de/ A3243G Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions. http://www.a3243g.com/ Primary Ciliary Dyskinesia Information on a rare congenital disease. http://www.p-c-d.org/en/ 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. http://www.siteman.wustl.edu/physician/cli... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. http://www.drgreene.com/html/21614.html The UDGD Spot Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis. http://www.camp-a-roo.com/UDGD/ New Scientist: Heroin Addiction Gene Identified and Blocked Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug. http://www.newscientist.com/article.ns?id=... 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. http://www.ctds.info/genetic_disorders.htm... 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. http://freespace.virgin.net/andy.bowles/ Your Genes, Your Health The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed. http://www.ygyh.org Sub Topics: Stickler's Syndrome Congenital Pain Insensitivity Polycystic Kidney Glycogen Storage Disease Type II Familial Dysautonomia Adrenoleukodystrophy Refsum's Rubinstein-Taybi Syndrome Huntington's Celiac Porphyrias Cardiovascular Alopecia Areata Adie Syndrome Lissencephaly Cardiac Gene Therapy Adrenal Hyperplasia Tuberous Sclerosis Neurological Bardet-Biedl Syndrome VATER Syndrome Cockayne Syndrome Dwarfism Autism Multiple Hereditary Exostoses Tay-Sachs Cri du Chat Syndrome Fanconi Anemia Neurofibromatosis Jacobsen Syndrome Menkes' Syndrome Myotonic Dystrophy Apert Syndrome Progeria Galactosemia Narcolepsy Cerebrocostomandibular Syndrome Leukodystrophy Ataxia Leber's Congenital Amaurosis Genetics Education Alstrom Syndrome Muscular Dystrophies Arthrogryposis Niemann-Pick Treacher Collins Syndrome Cornelia De Lange Syndrome Human Genetics Metabolic Sickle Cell Langer-Giedion Syndrome Familial Mediterranean Fever Tourette Syndrome Canavan Hydrocephalus Retinoblastoma Barth Syndrome Familial Erythromelalgia Musculoskeletal Aicardi Syndrome Acoustic Neuroma Phenylketonuria Rett's Syndrome Spinal Muscular Atrophy Angelman Syndrome Osteogenesis Imperfecta Friedreich Ataxia Tyrosinemia Hallervorden-Spatz Syndrome Marfan Syndrome Genetic Testing and Counseling Leigh's Cleidocranial Dysplasia Klippel-Feil Syndrome Ehlers-Danlos Syndrome Factor V Leiden Wilson's Disease Hemophilia Lymphedema Albinism Charcot-Marie-Tooth Disease Urological WAGR Syndrome Gaucher's Cystinosis Support Groups Thalassemia Homocystinuria Glutaricaciduria Craniofrontonasal Dysplasia Ablepharon-Macrostomia Syndrome Aase Syndrome Aarskog Syndrome Fragile X Syndrome Prader-Willi Syndrome Down Syndrome Turner Syndrome Alkaptonuria Xeroderma Pigmentosum Williams Syndrome Alagille Syndrome Cystic Fibrosis Hemochromatosis Joubert Syndrome Familial Hypercholesterolemia Crigler-Najjar Syndrome Coffin Lowry Syndrome Klinefelter Syndrome Hailey-Hailey Disease Beckwith-Wiedemann Syndrome Floating-Harbor Syndrome Von Hippel-Lindau Nail Patella Syndrome Alpha-1 Antitrypsin Deficiency Hereditary Angioedema Personal Pages McArdle's Mobius Syndrome Gilbert's Syndrome Lowe Syndrome Fatty Oxidation Hemihypertrophy Meckel-Gruber Syndrome DiGeorge Syndrome Incontinentia Pigmenti Laurence-Moon Syndrome Urea Cycle Hereditary Spastic Paraplegia Soto's Syndrome Mannosidosis Zellweger Syndrome Weaver Syndrome Waardenburg Syndrome Ectodermal Dysplasia Pseudoxanthoma Elasticum Machado-Joseph Lesch-Nyhan Syndrome Costello Syndrome Dubowitz Syndrome Velo-Cardio-Facial Syndrome Usher Syndrome Opitz Syndrome Trichothiodystrophy Sirenomelia Batten Disease Thrombocytopenia Absent Radius Syndrome Sturge-Weber Syndrome Prune Belly Syndrome Robinow Syndrome Russell Silver Syndrome Schizencephaly Smith Lemli Opitz Syndrome Smith-Magenis Syndrome Shwachman Syndrome Proteus Syndrome Popliteal Pterygium Syndrome Pallister Killian Mosaic Syndrome Pallister-Hall Syndrome Noonan Syndrome Cowden Syndrome Organizations Sanfilippo Syndrome Propionic Acidemia Epidermolysis Bullosa Related Topics: Health: Conditions and Diseases: Rare Disorders Health: Conditions and Diseases: Congenital Anomalies

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2006