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Aarskog Syndrome
Family Village - Aarskog Syndrome, Human Genome Mapping Project, National Library of Medicine, NORD: Aarskog Syndrome, OMIM: National Center for Biotechnology Informatio
Aase Syndrome
Adam.com: An Overview, NORD: Aase Syndrome
Ablepharon-Macrostomia Syndrome
Ablepharon Macrostomia Syndrome, Human Genome Mapping Project, NORD: Ablepharon Macrostomia Syndrome, OMIM: National Center for Biotechnology Informatio
Alagille Syndrome
Alagille Syndrome, Alagille Syndrome, Alagille Syndrome Alliance, Children's Liver Alliance, Dept. of Dermatology - University of Iowa College , NORD: Alagille Syndrome, Pediatric Oncall
Alkaptonuria
Alkaptonuria, Alkaptonuria and Ochronosis, eMedicine Online Text: Alkaptonuria, MedicineNet.com : Alkaptonuria, The Alkaptonuria Society
Alpha-1 Antitrypsin Deficiency
Alpha 1 Awareness Alliance, Alpha-1 Community, Late Manifestation of Alpha-1-antitrypsin Deficien, MedicineNet, Patient UK, Pediatric Oncall, Spiderspun, Understanding Alpha-1 Antitrypsin Deficiency, University of Cambridge
Batten
Batten Disease Family Association, Batten Disease Information Page, Batten Disease Support and Research Association, Nathan's Battle, seeAbility - Juvenile Battens Disease, The Luke and Rachel Batten Foundation, The Natey Foundation
Beckwith-Wiedemann Syndrome
Support Groups, Adam.com: An Overview, Beckwith-Wiedemann and Related Disorders Victoria, BWSN: Beckwith-Wiedemann Syndrome, Keep Kids Healthy, National Library of Medicine, The CaF Directory
Coffin Lowry Syndrome
Coffin-Lowry Syndrome Foundation, National Library of Medicine: Coffin-Lowry Syndrom, NINDS: Coffin Lowry Syndrome, NORD: Coffin Lowry Syndrome
Costello Syndrome
Costello Kids, Online Mendelian Inheritance in Man: Costello Synd
Cowden Syndrome
Cowden Syndrome, Cowdens Syndrome Support Group, Emergency Medicine
Craniofrontonasal Dysplasia
National Library of Medicine: CNFS, NORD: Craniofrontonasal Dysplasia, OMIM: National Center for Biotechnology Informatio
Crigler-Najjar Syndrome
Austin Health Information, Crigler-Najjar Association of America, Crigler-Najjar Disease, NORD: Crigler Najjar Syndrome Type I
Cystic Fibrosis
Camps, CFTR and Genetic Mutations, Conferences, Fund-Raisers, Medical Facilities, News and Media, Organizations, Personal Pages, Pharmaceuticals and Supplies, Research
DiGeorge Syndrome
22q and You Center, Dr. Greene's HouseCalls, National Library of Medicine: DGS, NCBI Genes and Diseases, Yahoo! Clubs VCFS Family Support
Down Syndrome
Nutrition, Organizations, Personal Pages, Support Groups, Articles on Communication, Chapel Haven - New Haven, Connecticut, Cincinnati Children's Hospital Medical Center, Diagnosis Down Syndrome, Down Syn On-Line Magazine, Down Syndrome, Down Syndrome Information Network, Down Syndrome: For New Parents, Down's Syndrome Medical Interest Group (UK), DS Sites on the Internet
Dubowitz Syndrome
National Library of Medicine, Yahoo! Groups
Ectodermal Dysplasia
Ectodermal Dysplasia Society, National Foundation for Ectodermal Dysplasia, NORD: Ectodermal Dysplasias, The Andy Fund, The CaF Directory, The Ectodermal Dysplasia Mailing List
Familial Hypercholesterolemia
MedicineNet, Yahoo Health
Fatty Oxidation
Adam's LCHAD Page, Fatty Oxidation Disorders, Health Care Professionals' Guide to Newborn S, Lchad.com, THCME Medical Biochemistry Page: Fatty Acid Oxidat, The CaF Directory
Floating-Harbor Syndrome
Floating Harbor Syndrome Support Group, National Library of Medicine: FHS, Readers Digest Health, The CaF Directory
Fragile X Syndrome
Carolina Fragile X Project, Conquer Fragile X, Inc., Fact Sheets for Health Professionals: Fragile X Sy, Fragile X Association of Australia, Fragile X Association of Southern California, Fragile X Fact's Page, Fragile X Research Foundation of Canada, Fragile X Syndrome, Fragile X Syndrome - Diagnostic and Carrier Testin, FRAXA Research Foundation Home Page
Glutaricaciduria
Glutaric Aciduria Type 1, IOGA: International Organization of Glutaric Acide, NORD: Glutaricaciduria I
Hailey-Hailey Disease
Hailey Hailey Disease (Familial Benign Chronic Pem
Hemihypertrophy
DrHull, Hemihypertrophy, Hemihypertrophy
Hemochromatosis
American Hemochromatosis Society, Canadian Hemochromatosis Society, CDC: Iron Overload and Hemochromatosis, Haemochromatosis Society UK, Haemochromatosis UK, Hemochromatosis Education and Research, Hemochromatosis Information Society, Hereditary Hemochromatosis, IPH-Net, Irish Haemochromatosis Society
Hereditary Angioedema
Adam.com: An Overview, C-1 Esterase Deficiency, E-Medicine: HAE, Hereditary Angioedema Support Group, MedicineNet.com - Medical Dictionary, Reader Digest Health
Hereditary Spastic Paraplegia
GeneClinics: An Overview, Hereditary Spastic Paraplegia, Hereditary Spastic Paraplegia, MCW Healthlink: HSP, Spastic Paraplegia Foundation, The FSP Support Group
Incontinentia Pigmenti
Ectodermal Dysplasia Society, Incontinentia Pigmenti, Incontinentia Pigmenti International Foundation, Incontinentia Pigmenti: All About Anna, MCW Healthlink: Incontinentia Pigmenti, National Library of Medicine, Readers Digest Health: IP, Vanderbilt Medical Center
Joubert Syndrome
Joubert Syndrome, Joubert Syndrome Foundation, National Library of Medicine: Joubert syndrome, Readers Digest Health, Ruan Crouse Support Appeal, The Genetics of Joubert Syndrome and Related Disor, TheFetus.net
Klinefelter Syndrome
American Association for Klinefelter Syndrome Info, drkoop.com: Klinefelter Syndrome, Genetic Org Home, Klinefelter Syndrome, Klinefelter Syndrome - The Ohio Support Network, Klinefelter Syndrome Support, Klinefelter Syndrome?, Klinefelter's Syndrome gynecomastia, My Klinefelter's Syndrome Page, Turner Center
Laurence-Moon Syndrome
Laurence Moon Bardet Biedl Society, National Library of Medicine: Laurence-Moon Syndro, NORD: Laurence Moon Syndrome
Lesch-Nyhan Syndrome
NINDS: Lesch-Nyhan Syndrome
Lowe Syndrome
Lowe Syndrome Association, National Library of Medicine: LS
Machado-Joseph
International Joseph Disease Foundation, Machado Joseph Disease, Machado-Joseph Disease Fact Sheet
Mannosidosis
International Society for Mannosidosis & Relat, NORD: Mannosidosis
McArdle's
McArdle's Disease Resources
Meckel-Gruber Syndrome
e-Medicine: Genetics and Metabolic Disease: MKS, Human Genome Mapping Project, NORD: Meckel Syndrome
Mobius Syndrome
About.com with Laura L. Jelliffe, Ph.D., MCW Healthlink: Mobius Syndrome, Mobius Syndrome, Moebius Syndrome Foundation, Readers Digest Health
Nail Patella Syndrome
Medstudents, Nail Patella Syndrome, Nail Patella Syndrome Worldwide, Readers Digest Health, U-M Kellogg Eye Center
Noonan Syndrome
Birth Defects Foundation: Noonan Syndrome, eMedicine - Noonan Syndrome : Article by Jennifer , National Library of Medicine, Noonan Syndrome, Noonan Syndrome - by Michelle Ellis, NORD - Noonan Syndrome, The CaF Directory, The Noonan Syndrome Support Group
Opitz Syndrome
Canadian Opitz Family Network, Family Village, National Library of Medicine: OS, NORD: Opitz Syndrome, The Opitz G/BBB Family Network, Zach's Opitz Syndrome Site
Organizations
American Society of Genetic Disorders, Australian MPS & Related Diseases Society, Dana's Angels Research Trust, Genetic Information and Patient Services, Inc (GAP, Genetic Interest Group, Hereditary Disease Foundation, Hereditary Hemorrhagic Telangiectasia Foundation I, Lysosomal Diseases New Zealand, The Ryan Foundation
Pallister Killian Mosaic Syndrome
National Library of Medicine, NORD: Pallister Killian Mosaic Syndrome
Pallister-Hall Syndrome
National Library of Medicine, NORD: Pallister Hall Syndrome, Pallister-Hall Syndrome: A Layman's Guide, Yahoo! Groups : Pallister-Hall Syndrome
Personal Pages
Alpha1 Antitrypsine Deficiency, Ashly's Skeletal Dysplasia, Caleb's Courage, Joy's Page, Maddy's Page, MCAD Angel, Mowat-Wilson, Robert Kenneth Picklesimer, Story of Robert Purkis, Taryn's World: About Switches
Popliteal Pterygium Syndrome
National Library of Medicine: Multiple Pterygium S, NORD: Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Gretton Homes, Ontario Prader-Willi Syndrome Association, Prader-Willi Alliance of New York, Prader-Willi Syndrome - Suite101, Prader-Willi Syndrome Association (USA), Prader-Willi Syndrome Association of South Africa, Prader-Willi Syndrome Association of Victoria (Aus, PWS Notes, The Foundation for Prader-Willi Research, The New Jersey Chapter of the Prader-Willi Syndrom
Propionic Acidemia
Dr. Greene: Breastfeeding with a Metabolic Disorde, eMedicine, NORD: Acidemia, Propionic, Propionic Acidemia Foundation
Proteus Syndrome
NORD: Proteus Syndrome, Pediatric Oncall, Proteus Syndrome Foundation, The CaF Directory
Prune Belly Syndrome
NORD: Prune Belly Syndrome, Prune Belly Syndrome Network
Pseudoxanthoma Elasticum
NORD: Pseudoxanthoma Elasticum, PXE International, VhiHealth-e
Robinow Syndrome
National Library of Medicine, NORD: Robinow Syndrome, Robinow Syndrome Foundation, Yahoo! Groups
Russell Silver Syndrome
NORD: Russell Silver Syndrome, The CaF Directory
Sanfilippo Syndrome
Ben's Dream, Bennett Children's Foundation, Children's Medical Research Foundation, MPS III: Sanfilippo Syndrome, NORD: Sanfilippo Syndrome
Schizencephaly
Cleveland Clinic, NINDS: Schizencephaly
Shwachman Syndrome
Katie's Journey, NORD: Shwachman Syndrome, Shwachman Syndrome, Shwachman-Diamond America, Shwachman-Diamond Syndrome Family/Friends, Shwachman-Diamond Syndrome International, The CaF Directory
Smith Lemli Opitz Syndrome
Emergency Medicine, NORD: Smith Lemli Opitz Syndrome, Smith Lemli Opitz Syndrome
Smith-Magenis Syndrome
NORD: Smith Magenis Syndrome, PRISMS (Parents and Researchers Interested in Smit, The CaF Directory
Soto's Syndrome
About com Guide Laura L. Jelliffe, Ph.D., MCW Healthlink, Soto's Syndrome, Sotos Syndrome Support Association, Sotos Syndrome Support Association of Canada
Sturge-Weber Syndrome
NORD: Sturge Weber Syndrome, Sturge-Weber Syndrome Center, Sturge-Weber Syndrome Community, The Sturge-Weber Foundation
Thrombocytopenia Absent Radius Syndrome
NORD: Thrombocytopenia Absent Radius Syndrome, TAR Syndrome, TAR Syndrome Support Group
Trichothiodystrophy
A Parent's Account of Trichoththiodystrophy, About Andrea?s Disease, Atlas of Genetics and Cytogenetics in Oncology and, Foundation for Ichthyosis and Related Skin Types, Hair Shaft Defects - Trichothiodystrophy, Jeans for Genes Day, National Library of Medicine, Trichothiodystrophy - Doctor Alfredo Rossi and Doc, Yahoo! Groups : Trichothiodystrophy, Yahoo! Groups : Trichothiodystrophy Family Contact
Turner Syndrome
National Library of Medicine, NORD - Turner Syndrome, Pediatric Oncall, The National University Hospital Turner Support Gr, The Turner's Syndrome Society of the US, Turner Syndrome, Turner Syndrome Clinical Trials, Turner Syndrome: Toward Early Recognition and Impr, Turner's Syndrome Society, Texas, Turners Syndrome Support
Urea Cycle
National Urea Cycle Disorders Foundation, Urea Cycle Disorders
Usher Syndrome
A-Z Deafblindness, Usher Syndrome
Velo-Cardio-Facial Syndrome
MaxAppeal, NORD - Velocardiofacial Syndrome, Velo-Cardio-Facial Syndrome (VCFS), Velo-Cardio-Facial Syndrome Educational Foundation, Yahoo! Groups: VCFS Family Support
Von Hippel-Lindau
Family Village, Radiology: Von Hippel Lindau Disease, Von Hippel-Lindau Disease, Von Hippel-Lindau Family Alliance
Waardenburg Syndrome
National Library of Medicine, NORD: Waardenburg Syndrome
Weaver Syndrome
From the Window of a Weaver's Syndrome, National Library of Medicine, NORD: Weaver Syndrome
Williams Syndrome
A Music Camp for Those Afflicted but Gifted, Too, Moylan Family Website, National Library of Medicine, NORD : Williams Syndrome, Williams Syndrome, Williams Syndrome, Williams Syndrome Association, Williams Syndrome Association of Ireland, Williams Syndrome Foundation
Xeroderma Pigmentosum
Children of the Moon, National Organization of Rare Disorders - Xeroder, Online Mendelian Inheritance in Man - Xeroderma Pi, Understanding Xeroderma Pigmentosum, Xeroderma Pigmentosum, Xeroderma Pigmentosum Society, XP Support Group
Zellweger Syndrome
Justin Comeau, MCW Healthlink, NORD: Zellweger Syndrome, Zellweger Syndrome
A3243G
Explains a gene defect which causes several diseases including Maternally Inherited Diabetes with Deafness. Features a newsletter, forum and definitions.
Blepharophimosis Ptosis Epicanthus Inversus Syndro
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.
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.
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.
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 Lt
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 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.
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.