Genetic Disorders:   Sub-Categories   • Aarskog Syndrome (4) • Aase Syndrome (3) • Ablepharon-Macrostomia Syndrome (4) • Alagille Syndrome (7) • Alfi's Syndrome (2) • Alkaptonuria (4) • Alpha-1 Antitrypsin Deficiency (11) • Batten Disease (7) • Beckwith-Wiedemann Syndrome (7) • Bloom Syndrome (5) • Branchio-Oto-Renal Syndrome (6) • Coffin Lowry Syndrome (4) • Cohen Syndrome (4) • Costello Syndrome (2) • Cowden Syndrome (3) • Craniofrontonasal Dysplasia (3) • Crigler-Najjar Syndrome (7) • Currarino Syndrome (3) • Cystic Fibrosis (118) • DiGeorge Syndrome (4) • Down Syndrome (96) • Dubowitz Syndrome (3) • Ectodermal Dysplasia (5) • Epidermolysis Bullosa (16) • Familial Hypercholesterolemia (1) • Fatty Oxidation (5) • Floating-Harbor Syndrome (4) • Fragile X Syndrome (12) • Gilbert's Syndrome (10) • Glutaricaciduria (3) • Hailey-Hailey Disease (4) • Hemihypertrophy (3) • Hemochromatosis (25) • Hereditary Angioedema (6) • Hereditary Spastic Paraplegia (7) • Hydrolethalus Syndrome (4) • Incontinentia Pigmenti (7) • Joubert Syndrome (7) • Klinefelter Syndrome (9) • Laurence-Moon Syndrome (3) • Lesch-Nyhan Syndrome (1) • Loeys-Dietz Syndrome (5) • Lowe Syndrome (2) • MEB Disease (3) • Machado-Joseph (3) • Mannosidosis (2) • Meckel-Gruber Syndrome (2) • Mobius Syndrome (5) • Mulibrey Nanism (2) • Nail Patella Syndrome (4) • Nasu-Hakola Disease (3) • Noonan Syndrome (8) • Opitz Syndrome (4) • Pallister Killian Mosaic Syndrome (9) • Pallister-Hall Syndrome (3) • Popliteal Pterygium Syndrome (1) • Prader-Willi Syndrome (9) • Propionic Acidemia (5) • Proteus Syndrome (5) • Prune Belly Syndrome (2) • Pseudoxanthoma Elasticum (5) • RAPADILINO Syndrome (2) • Robinow Syndrome (4) • Russell Silver Syndrome (3) • Sanfilippo Syndrome (7) • Schizencephaly (1) • Shwachman Syndrome (7) • Sirenomelia (6) • Smith Lemli Opitz Syndrome (3) • Smith-Magenis Syndrome (3) • Soto's Syndrome (5) • Sturge-Weber Syndrome (4) • Thrombocytopenia Absent Radius Syndrome (3) • Trichothiodystrophy (10) • Turner Syndrome (13) • Urea Cycle (2) • Usher Syndrome (2) • Velo-Cardio-Facial Syndrome (5) • Von Hippel-Lindau (4) • Waardenburg Syndrome (2) • Weaver Syndrome (2) • Williams Syndrome (17) • Wolf-Hirschhorn Syndrome (7) • Xeroderma Pigmentosum (6) • Zellweger Syndrome (7) • Organizations (8) • Personal Pages (11)   Related Categories   • Acoustic Neuroma @ (15) • Adie Syndrome @ (3) • Adrenal Hyperplasia @ (6) • Adrenoleukodystrophy @ (6) • Aicardi Syndrome @ (7) • Albinism @ (11) • Alopecia Areata @ (13) • Alstrom Syndrome @ (3) • Angelman Syndrome @ (20) • Apert Syndrome @ (9) • Arthrogryposis @ (49) • Aspartylglucosaminuria @ (3) • Ataxia @ (8) • Autism @ (525) • Bardet-Biedl Syndrome @ (3) • Barth Syndrome @ (3) • Canavan @ (4) • Cardiac @ (48) • Cardiovascular @ (5) • Celiac @ (56) • Cerebrocostomandibular Syndrome @ (2) • Charcot-Marie-Tooth Disease @ (7) • Choroideremia @ (3) • Cleidocranial Dysplasia @ (3) • Cockayne Syndrome @ (3) • Congenital Lactase Deficiency @ (2) • Cornea Plana Congenita @ (2) • Cornelia De Lange Syndrome @ (4) • Cri du Chat Syndrome @ (4) • Cystinosis @ (8) • Dwarfism @ (29) • Ehlers-Danlos Syndrome @ (27) • Ellis-van Creveld Syndrome @ (5) • Factor V Leiden @ (4) • Familial Dysautonomia @ (8) • Familial Erythromelalgia @ (3) • Familial Mediterranean Fever @ (8) • Fanconi Anemia @ (12) • Freeman-Sheldon Syndrome @ (5) • Friedreich Ataxia @ (12) • Fuchs' Dystrophy @ (4) • GRACILE Syndrome @ (3) • Galactosemia @ (5) • Gaucher's @ (13) • Gene Therapy @ (68) • Genetic Testing and Counseling @ (30) • Genetics Education @ (18) • Glycogen Storage Disease Type II @ (4) • Hallervorden-Spatz Syndrome @ (3) • Hemophilia @ (26) • Homocystinuria @ (2) • Human Genetics @ (240) • Huntington's @ (25) • Hydrocephalus @ (42) • Imerslund-Grasbeck Syndrome @ (2) • Klippel-Feil Syndrome @ (6) • Langer-Giedion Syndrome @ (2) • Larsen Syndrome @ (4) • Leber's Congenital Amaurosis @ (9) • Leigh's @ (4) • Leukodystrophy @ (25) • Lissencephaly @ (5) • Lymphedema @ (24) • Lysinuric Protein Intolerance @ (5) • Maple Syrup Urine Disease @ (10) • Marfan Syndrome @ (24) • Menkes' Syndrome @ (6) • Metabolic @ (365) • Mucolipidosis Type IV @ (4) • Multiple Hereditary Exostoses @ (6) • Muscular Dystrophies @ (63) • Musculoskeletal @ (184) • Myotonic Dystrophy @ (4) • Narcolepsy @ (18) • Neurofibromatosis @ (15) • Neurological @ (111) • Niemann-Pick @ (4) • Osteogenesis Imperfecta @ (14) • PEHO Syndrome @ (5) • Phenylketonuria @ (9) • Polycystic Kidney @ (13) • Porphyrias @ (13) • Progeria @ (10) • Refsum's @ (3) • Retinoblastoma @ (24) • Retinoschisis @ (6) • Rett's Syndrome @ (19) • Rubinstein-Taybi Syndrome @ (6) • Sickle Cell @ (19) • Spinal Muscular Atrophy @ (16) • Stickler's Syndrome @ (3) • Support Groups @ (24) • Tay-Sachs @ (4) • Thalassemia @ (21) • Tourette Syndrome @ (56) • Treacher Collins Syndrome @ (4) • Tuberous Sclerosis @ (11) • Tyrosinemia @ (2) • Unverricht-Lundborg Disease @ (3) • Urological @ (25) • VATER Syndrome @ (17) • WAGR Syndrome @ (3) • Wilson's Disease @ (11)   Site Matches

Web Results 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/ 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/ 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/ 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. http://www.kumc.edu/gec/support/ 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.html 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/ Information on Trisomy 13 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease. http://www.drgreene.org/body.cfm?id=21&action=detail&ref=614 Primary Ciliary Dyskinesia Information on a rare congenital disease. http://www.p-c-d.org/en/ What malformation did El Greco paint? El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it? http://www.jdawiseman.com/papers/el-greco/el-greco-dysmorphology.html 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

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