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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 Alopecia Areata Adie Syndrome Lissencephaly Adrenal Hyperplasia Tuberous Sclerosis 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 Alstrom Syndrome Muscular Dystrophies Arthrogryposis Niemann Pick Treacher Collins Syndrome Cornelia De Lange Syndrome Sickle Cell Langer Giedion Syndrome Tourette Syndrome Canavan Hydrocephalus Retinoblastoma Barth Syndrome Familial Erythromelalgia Aicardi Syndrome Acoustic Neuroma Phenylketonuria Rett's Syndrome Spinal Muscular Atrophy Angelman Syndrome Osteogenesis Imperfecta Friedreich Ataxia Tyrosinemia Hallervorden Spatz Syndrome Marfan Syndrome Leigh's Cleidocranial Dysplasia Klippel Feil Syndrome Ehlers Danlos Syndrome Factor V Leiden Wilson's Disease Hemophilia Lymphedema Albinism Charcot Marie Tooth Disease WAGR Syndrome Gaucher's Cystinosis Thalassemia Homocystinuria Congenital Musculoskeletal Disorders Congenital Neurological Disorders Congenital Cardiovascular Disorders Congenital Urological Disorders Congenital Heart Disease Gene Therapy Genetics Education Human Genetics Genetic Testing and Counseling Support Groups

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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 Batten Hereditary Angioedema McArdle's Mobius 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 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 Sanfilippo Syndrome Propionic Acidemia Epidermolysis Bullosa

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

Sites:

Dr. Greene's HouseCalls  - http://www.drgreene.com/html/21614.html  A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.  The UDGD Spot  - http://www.camp-a-roo.com/UDGD/  Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.  Primary Ciliary Dyskinesia  - http://www.p-c-d.org/en/  Information on a rare congenital disease.  Gene Clinics  - http://www.geneclinics.org  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  - http://www.kumc.edu/gec/support/  Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.  XLH Network  - http://www.xlhnetwork.org  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  - http://www.ctds.info/genetic_disorders.html  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  - http://www.siteman.wustl.edu/physician/clinical_trials/non_therapeutic_1736_detail.shtml  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  - http://www.ygyh.org  The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.  Blepharophimosis Ptosis Epicanthus Inversus Syndrome  - http://freespace.virgin.net/andy.bowles/  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.  - http://www.immd.de/  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 Center For Jewish Genetics Disorders  - http://www.jewishgeneticscenter.org/  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.  A3243G  - http://www.a3243g.com/home.asp  Explains a gene defect which causes several diseases including Maternally Inherited Diabetes with Deafness. Features a newsletter, forum and definitions.  New Scientist: Heroin Addiction Gene Identified and Blocked  - http://www.newscientist.com/article.ns?id=dn7445  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.