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Health - Conditions and Diseases - Genetic Disorders
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Your Genes, Your Health - The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.

Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.

The UDGD Spot - Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.

Primary Ciliary Dyskinesia - Information on a rare congenital 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 Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.

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.

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.

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.

Klinefelter Syndrome Support - Educational and support information about Klinefelter Syndrome/XXY and its variants.

XXY List - A private discussion list for which you must be an XXY to subscribe.

Klinefelter Syndrome - Overview and medical information.

Klinefelter's Syndrome gynecomastia - Male chest recontouring for large male breasts (gynecomastia) found in Klinefelter's Syndrome with surgical reduction by excision and liposuction. Before and after photographs, links, movies, and patient question and answer boards.

Klinefelter Syndrome? - A parent's point of view, with articles.

Genetic Org Home - Information about Klinefelter Syndrome, when it was first discovered, the common characteristics, and treatment.

American Association for Klinefelter Syndrome Information and Support (AAKSIS) - Email list, conference, membership, newsletter, regional groups and resource links.

Turner Center - Literature on XYY, Klinefelter, XXX, and Turner's Syndrome.

XXY Information (Klinefelter Syndrome) - Medical information, news, and links.

Yahoo!: XXYList - XXY is a genetic anomaly which occurs 1 in 500 in the general population today. Men with this condition usually have Klinefelters Syndrome. Offers joining instructions for this support group.

My Klinefelter's Syndrome Page - David Brager's story, with information about Klinefelter's.

[drkoop.com] Klinefelter's syndrome - A chromosome abnormality that affects only men and causes hypogonadism.

Batten Disease - Information about this disorder, fund raising and links from The Batton Support and Research Trust.

The Natey Foundation - Information for parents and families of Battens victims.

Batten Disease Information Page - Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

Batten Disease Family Association - Information about the BDFA, which provides supportive, informative, networking for the families, carers and professional giving care to children and adults with this disease in the United Kingdom.

Nathan's Battle - Details a boy's fight against Batten's Disease and dedication to promote awareness to help find a cure.

Batten Disease Support and Research Association - BDSRA goals, support groups, local chapters, and resources for parents and families of Batten Disease patients.

Med Help International - An article about batten disease, its history, a look at neuronal ceroid lipofuscinoses disorders, how they are inherited, statistics, causes, diagnosis, treatment and research.

seeAbility - Juvenile Battens Disease - An in depth article on this disorder, includes the stages of the disease and the symptoms.

Xeroderma Pigmentosum Society - Resource for information about the disease and about the not-for-profit support organization devoted to supporting patients and families and promoting research. Links, contact information, XP Society news about fund raising events and the unique Camp Sundown program.

Children of the Moon - A portal site that provides an online community for children, teens and adults with xeroderma pigmentosum.

XP Support Group - Xeroderma Pigmentosum Support Group - a UK charitable Trust founded in 1999 by parents of a child with XP, to support patient families in the UK and promote research related to this rare, genetic disorder.

Pediatric Database - A definition of xeroderma pigmentosum with the epidemiology, pathogenesis, clinical features, investigation and management.

NORD - Xeroderma Pigmentosum - Offers alternative names, a general discussion and resources.

Xeroderma Pigmentosum - An article about this disorder in English and Italian along with some images.

Xeroderma Pigmentosum Hub - Links to information and resources for this disease.

Fragile X Association of Southern California - Fragile X Syndrome is the leading inherited cause of developmental disabilities and mental impairment worldwide. It affects 1 in 2,000 males and 1 in 4,000 females. It is estimated that 1 in 259 females are carries of the premutation.

FRAXA Research Foundation Home Page - Non-profit organization run by parents. Fighting to find a cure for Fragile X Syndrome and helping Fragile X Family's.

The National Fragile X Foundation - The National Fragile X Foundation informes and educates about the Fragile X Syndrome.

Familyvillage - Links to places to talk about Fragile X.

Fragile X Syndrome - Diagnostic and Carrier Testing - A Policy Statement from the American College of Medical Genetics.

Fragile X Syndrome - Single page on recognition of the condition in young children.

Fragile X Fact's Page - Describing Fragile X Syndrome.

Fragile X Association of Australia - Information on this disease, medical aspects, education, references, contacts and what's new in Australia

Carolina Fragile X Project - A series of studies examining the impact of fragile X syndrome (FXS) on individuals, families and the agencies that serve them.

GenomeLink - An introduction of Fragile X Syndrome, followed by links to articles, clinical trials and support groups.

Conquer Fragile X, Inc. - Creating a virtual research center in Israel to find a cure.

Queensland Fragile X Association - About QFXA, news, events, links and contacts. Also information of fragile X syndrome.

Online Support Group - Support group for Family's who are dealing with Fragile X Syndrome.

Fact Sheets for Health Professionals: Fragile X Syndrome - From the Victorian Government, Australia.

Pediatric Database - A definition of Alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.

Dept. of Dermatology - University of Iowa College of Medicine - Images of Alagille's Syndrome.

Children's Liver Alliance - A description, the diagnosis, symptoms, treatment and complications of Alagille syndrome.

Alagille Syndrome Alliance - Worldwide support network for people who care about people with alagille syndrome hosted by talkcity.

NORD - Alagille Syndrome - The synonyms, a general discussion and further resources.

Hemochromatosis Education and Research - Provides education, information and resources for health care providers, patients, and relatives of people with hereditary hemochromatosis.

Iron Overload Diseases Association - Information on hemochromatosis. Covered are the accepted protocols for diagnosis, treatment, maintenance and diet.

Iron Overload: Hemosiderosis; Hemochromatosis - Merck Manual looks at this disorder, its signs and symptoms, diagnosis and treatment.

Iron Overload, Public Health and Genetics - A supplement to the Annals of Internal Medicine with articles about hemochromatosis.

Links on Hemochromatosis - A collection of links to sites, including scientific articles, related to the genetic iron overload disease.

Iron Disorders Institute - Non-profit National Voluntary Health Agency that provides information about disorders of iron such as hemochromatosis.

Canadian Hemochromatosis Society - Information about the symptoms, diagnosis and treatment of hemochromatosis.

American Hemochromatosis Society - This organisation provides information and educates the public about hemochromatosis. They publish a newsletter and have an online support group.

Hemochromatosis Education and Screening Project Western North Carolina - HESP is a two-year project to screen low-income residents of western North Carolina for hereditary hemochromatosis (HH) and to educate health care providers about HH.

CDC: Iron Overload and Hemochromatosis - The US Centers for Disease Control and Prevention provide reviewed information on hemochromatosis, including screening, information for patients, FAQ and resources.

Omim: Hemochromatosis - Detailed up-to-date scientific information on hemochromatosis.

Hereditary Hemochromatosis - The website of a family whose members have hemochromatosis, with a description of how they are affected, and links to hemochromatosis sites.

Your Genes Your Health: Hemochromatosis - Multimedia guide where you can learn what it is, what causes it, what it is like to have it, and how it is inherited, diagnosed, and treated.

Ironman Humor - Brings a bit of humor to a deadly serious condition.

Haemochromatosis UK - Light hearted and simple terms in explaining the serious disease of haemochromatosis.

Haemochromatosis Society UK - Voluntary organisation for patients in England, Wales, Scotland and Northern Ireland.

Prader-Willi Alliance of New York - Represents the interests of individuals in New York State with Prader-Willi syndrome, their families, and the professionals who provide services to the Prader-Willi population.

Prader-Willi Syndrome Association of Victoria (Australia) - Includes details about the organization, a diagnosis/infant guide, a general guide, members stories and links.

Williams Syndrome and Prader-Willi Syndrome - Diagnostic assessment, selected treatment services and opportunities to participate in research from the Yale University Child Study Center.

Prader-Willi Syndrome Association (USA) - Characteristics include hypotonia, insatiable appetite, obesity if food intake is uncontrolled, hypogonadism and incomplete sexual development, developmental delays, variable degrees of mental retardation or functional retardation, short stature (adult), small hands and feet, mild dysmorphology, and behavior problems which can be severe.

Ontario Prader-Willi Syndrome Association - OPWSA provides support and information to all those interested in finding out about this syndrome. A special emphasis on Canadian content.

The New Jersey Chapter of the Prader-Willi Syndrome Association - Includes news, important dates, fund raising, maps and links.

Prader-Willi Syndrome Hub - Links to information and resources.

Prader-Willi Syndrome - Suite101 - A forum to provide a support base for PWS without having to join one of the national or international associations, and to make people more aware of PWS.

General Practice Notebook - Prader-Willi syndrome - Clinically-oriented information.

The Prader-Willi Syndrome Association (UK) - Information and resources about this chromosomal disorder.

Gretton Homes - Information about the organization that offers residential care for people with Prader-Willi Syndrome.

The Prader-Willi Alliance for Research - A non-profit group of volunteer families, friends and researchers aiming to raise funds for research into finding treatments for Prader-Willi Syndrome.

Growth Charts for Children with Down Syndrome - Charts included are for height, weight, and head circumferences. Printable.

Uno Mas Down Syndrome Online - Supportive online group of parents & friends of kids with Down Syndrome. Message Boards and Personal Stories. Hundreds of photos.

Down Syndrome - A listing of organizations worldwide, support groups, and toy catalogs for children of special needs.

DS Sites on the Internet - A large listing of sites on the internet dealing with Down Syndrome, compiled by Len Leshin, M.D.

Riverbend Down Syndrome Parent Support Group - Resources and abstracts for parents and professionals on communication, early intervention, therapies, medicine, literacy, medical issues, mathematics, vitamins and other supplements.

Down Syndrome: For New Parents - Dedicated to providing parents with information about Down syndrome.

Health Issues in Down Syndrome - A collection of medical essays and abstracts for parents.

Mosaic Down Syndrome - Stories, message boards, and a FAQ.

[HealthBoards.com] Down Syndrome Message Board - The archives of this board.

Down Syndrome Information Network - Includes a online library of books and articles.

Diagnosis Down Syndrome - Personal, loving stories from parents on adoption of a Down Syndrome baby. Also stories from those that found out during the pregnancy, and those that had a diagnosis after.

Translocation - Trisomy 21 - Includes personal stories of Down syndrome, educational, health, and government links and a discussion board.

Jesus and Downs - Message board to connect Christian parents who have a loved one with Down Syndrome.

Mayo Clinic: Down's Syndrome - A description of the disease plus complications, risk factors, diagnosis and treatment.

Einstein-Syndrome: Down Syndrome with a Positive Attitude - Help and hope on the development of a Down Syndrome child. Also education choices, the treatment of medical problems, and keeping good health. Stories from moms about their kids.

The PREP Program - A school and resource centre. Includes descriptions of what they do with toddlers, school-aged children, and teens. Also included are their fees.

Health Care for Adults With Down Syndrome - Recommendations on their specific health maintenance needs.

Down Syn On-Line Magazine - Focusing on first-person experiences, opinions, pictures, and questions from those who love someone with Down Syndrome.

Learn about Down Syndrome - What it is, symptoms, and statistics as to how often it occurs.

Yahoo! Groups : Christian-DS-Parents - Mailing list for parents of Down Syndrome children who are practicing Christians.

Epilepsy-Down Syndrome Foundation - Research into the dual diagnoses of Down syndrome and epilepsy. Emphasizes nutritional and non-medical interventions.

Families Dealing With Down Syndrome - A family oriented e-mail group that is geared towards the love, support and health of children with Down Syndrome.

Down's Syndrome Medical Interest Group (UK) - Information for healtcare professionals, including UK-specific growth charts, guidelines, and medical information library.

Articles on Communication - How parents can teach their children with Down Syndrome to talk and communicate effectively.

Perspectives - A Message to Parents of Down Syndrome Children - These children have tremendous potential. How much they accomplish depends on the opportunities they are given. Lists some of the critical opportunities needed.

Connecticut Down Syndrome Congress - A Connecticut organization of families, professionals and friends with a common interest - improving the lives of persons with Down syndrome.

Cognitive Enhancement Research Institute - Articles on smart drugs, antioxidants, and other vitamins in nutritional intervention in Down Syndrome. Also includes an interview with Dixie Lawrence.

Dr. Dave - Includes two slide shows, one on the biochemical aspects of Down Syndrome, and the other on Targeted Nutritional Intervention.

Alternate Therapies - An introduction to Targeted Nutritional Intervention and article comparing it to multi-vitamins and the RDA. Also suggests supplements to give for hair loss.

Treatment of Children and Adults - Principles behind TNI's use, treatment protocols, and an expanded bibliography. By Dr. Lawrence G. Leichtman, MD, PhD

Jacob and DS Treatment - A personal story of how Jacob was successfully treated using metabolic therapy. There are pictures.

The Ragans Targeted Nutritional Intervention Site - Has more than ten parent testamonials on what TNI did for their child. Also included is a frequently asked questions page.

Canadian Down Syndrome Society (CDSS) - Includes their newsletter and their position statements.

Initiative for People with Down's Syndrome - Includes photos of children from around the world, and an online exhibition entitled "Variety Enriches Our World."

Down's Syndrome Association, Lincolnshire Branch - Poems and stories, articles, and book reviews.

National Association for Down Syndrome - In Chicago. Includes a bulletin board.

Bringing Up Down Syndrome - In southern New Jersey. Includes a message board, chatroom, and a variety of links.

Down's Syndrome Association, London Branch, UK - Support group for parents and carers of people with Down's Syndrome.

Down's Syndrome Association, Liverpool Branch - Read back issues of their newsletter.

Down Syndrome Parent Network - Includes a list of service providers, also books to consider reading.

Down Syndrome Association of Toronto - Information on education and health as it relates to Down Syndrome.

Eastern Pennsylvania Down Syndrome Center - Includes a message board and chat room, also a list of their coming events.

Down Syndrome Research Foundation and Resource Centre - Articles on psychological, social, and physical development, also on health issues. Research project reports and summaries.

Friends of Frederick Maryland - Family Resource Information Education Network for Down Syndrome. Includes a list of events in that area.

Down Syndrome Research Online Advocacy Group - Information on clinical, biomedical, and scientific research into Down syndrome.

The Down Syndrome Educational Trust - Based in the United Kingdom. Working to advance the development and education of individuals with Down syndrome

Colorado Springs Down Syndrome Association - Information about the organization as well as the disease. Includes membership, events, a photo album, articles and links.

Piedmont Down Syndrome Support Network - Information about the parent support group for Winston-Salem, North Carolina.

Down Syndrome Research Foundation - Information on the Antioxidant Research Project and raising funds for it. Includes news, health issues, research, events, education, alternate therapies and contact details.

Down Syndrome Association of Greater New Orleans - Has photo gallery and a list of the association's board members.

Triangle Down Syndrome Network - For families in central North Carolina. Online newsletter and stories about their kids.

Gold Coast Down Syndrome Organization - In Palm Beach county, FL. Provides a FAQ and inclusion information.

Oshkosh Down Syndrome Group - For parents of a down syndrome child, located in Oshkosh, Wisconsin. Includes newsletter, links and a photograph gallery.

Association of Greater Cincinnati for Down Syndrome - Information on the programs they offer, and upcoming events.

Aim - High Down Syndrome - In New York. Articles, membership, and events.

DS Network, Inc. - Includes bulletin board and events calendar.

Sharing Down Syndrome Arizona - Has a listing of Down Syndrome events in their area, also many poems and stories.

Down Syndrome Catalana Foundation - Information about the foundation.

Ups & Downs Calgary Down Syndrome Association - Includes newsletters and discussion.

Mile High Down Syndrome Association - Has a section on research, as well as examples of the Kids 'R Kids calendar.

Trisomy 21 Foundation of Northern New York - Includes information on clinical studies, a scrapbook, upcoming events, and newsletter.

Hawkeye Area Down Syndrome Association - The organizations' goals, and also how to get on the MR Waiver List.

Central Illinois Down Syndrome Organization (CIDSO) - Contains a list of the organization's goals, and information about their library and events.

North Country Down Syndrome Association - Provides information about the association, which is located in Plattsburgh, NY, serving Clinton and Essex Counties. Also has pictures.

PROUD - Orange County, CA DS Support Group - Parents Regional Outreach for Understanding Down Syndrome, based in Orange County, California.

Home of the Baumli's - Stories about the Baumli's children, one of whom has Spina Bifida and one who has Down Syndrome.

Treating Down Syndrome: Mary Alice's Page - Includes resources, pictures, and the accomplishments of Mary Alice.

John: The Sky's the Limit - Includes his developmental program that resulted in John being at the head of his Kindergarten class at age five. Also lists his nutritional supplements.

Regehr Family Down Syndrome Resource - Providing simple information about Down Syndrome.

Fabio - Fabio's story, pictures, poems and information on Down Syndrome, as well as links and addresses of organizations and parents groups in the U.S. and worldwide.

Rose - This family's story of how they almost lost their daughter after heart surgery, and her life since then.

Rachel's Story - Has a diary by Rachel's Mum to chart her milestones. Also a hospital diary on Rachel's heart surgery.

Abigail's Down Syndrome Pictures and Stories - Stories and pictures from her and her family's daily life. Also the article, "God, Do You Care," and a FAQ providing information on how Abigail achieved good health and development.

Down Around Town - Has pictures of Ashley at the Special Olympics, also her with her sister.

George and Charley - Pictures and links.

Matea's Corner - Shares their story.

Darbi's Place - Darbi Brumbaugh. Pictures, a mom's story, and information about about Darbi's open heart surgery.

Jonathan's Page - Information about his daily life, his school, his hobbies, his family and friends.

Down's Really Up - Jonathan's story.

Down Syndrome Pictures of Older Children and Babies - Photos from the daily lives of families who are blessed with a child with Down's Syndrome. Pictures include family members.

Wild Thing Photo Album: Pictures of People with Down Syndrome. - Several galleries of people with Down Syndrome in daily activities.

ELIJAH-dot-NET - Pictures of Elijah at various ages, with links to information on Down Syndrome.

Logan's Link - Logan's story, Down Syndrome links, and picture galleries.

Keeping UP With Matthew - Story of Matthew Kelley, a boy with Down Syndrome. Includes family pictures.

Ryan's Story - Ryan's birth and diagnosis, Down Syndrome links, and family pictures.

I'm Down's Syndrome. But I know how to Type! - Karen Hicks tells about her life and interests.

Tim's Turner Syndrome Page - Some information about this disease and links to other sites.

Turner's Syndrome Society, Texas - Providing links and information about Turner's Syndrome. Definition and Synonyms, FAQ, TSS Societies (National, State, and Local), Associated Links, Newsgroup discussions, Conference Information.

The Turner's Syndrome Society of the US - Learn about this disease, find medical information, order publications, share experiences, see some TS kids, and get screening information for TS.

Turner Syndrome - A description of this disorder followed by links to further resources.

The National University Hospital Turner Support Group - For patients with Turner Syndrome and their families, combined with the pharmaceutical company Serono Singapore Pte. Ltd. to co-organise biannual meetings and parties for the group.

National Library of Medicine - Offers synonyms for Turner syndrome, a summary and a list of major features.

NORD - Turner Syndrome - Offers alternative names, a general discussion and further resources.

Pediatric Database - A definition of Turner syndrome, followed by the epidemiology, pathogenesis, clinical features, investigations and management.

Pediatric Oncall - Information about approach to a child with Turner's syndrome.

Alkaptonuria and Ochronosis - A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed.

Alkaptonuria - A brief discussion about this disease and its statistics world wide. Followed by a case study of a 4 year old boy, whose parents noted the darkening of the urine to an almost black color when it was left standing.

MedicineNet.com : Alkaptonuria - An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment.

eMedicine Online Text: Alkaptonuria - An in depth look at this disorder written by Karl S Roth, MD. From a description to treatment all aspects of this disease are discussed.

The Ortho-McNeil CF Care Website - Provides people with cystic fibrosis, family members, and the CF community with quick and easy access to education and information.

Cystic Fibrosis in the Ukraine

Future Force - Irish publication including articles on home IVs, nutrition, exercise and first person accounts of living, dying and transplantation.

Cyber Campus - The Cyber Campus is a computer course aiming to empower and educate people with Cystic Fibrosis. From the Cystic Fibrosis Association of Ireland (CFAI).

CF Advantage - The mutation that causes deadly cystic fibrosis has survived for 52,000 years - perhaps because it offers protection against diarrhea. By Josie Clausiusz

NHLBI, Facts About Cystic Fibrosis

Cystic Fibrosis Research Inc. - News about CF research. Site also has a newsletter available.

PulmonologyChannel - Information on cystic fibrosis.

Mamas Health - Find out what Cystic Fibrosis is, the symptoms and the causes.

MyCysticFibrosis - Log on for Living With Cystic Fibrosis - Personal management tools to help track important health measures, together with in-depth articles and personal support from site specialists. Members can share data with caregivers and their healthcare team.

Cystic Fibrosis Resource Center - Directory about Cystic Fibrosis, including books, medical news, articles and information, links, message boards.

Cystic Fibrosis I.Q. Test - Test what you know about cystic fibrosis.

Cystic Fibrosis Health FactSheet - Concise factsheet on causes, symptoms and treatment of cystic fibrosis, this factsheet can also be downloaded in Acrobat format

Cystic Fibrosis Links - Cystic Fibrosis Links and Information

Yahoo! Health - Cystic Fibrosis

The Breathing Room - Guidance about the art of living with cystic fibrosis.

Sharktank.org - Dedicated research for a cure for cystic fibrosis.

Cystic Fibrosis Management - Article detailing therapeutic options for co-management.

Manual for Cystic Fibrosis Patients and their Families - From the European Thematic Network for Cystic Fibrosis. In depth information in PDF.

Jewish Genetic Diseases - Cystic Fibrosis - Page with basic information on Cystic Fibrosis: symptoms, incidence in people of Jewish descent (Ashkenazi Jews), diagnosis, treatment, and screening.

It Can't Be CF - For those going through the Cystic Fibrosis (CF) diagnosis process. Symptoms, misconceptions, diagnosis stories, (one child with failure to thrive, another misdiagnosed with asthma), general information, links and resources are included.

Cystic Fibrosis Western Australia - Includes a calendar of events, information for people with CF who travel to Australia from other countries (what their healthcare entitlements are), pointers for teachers of children with CF, and a list of services and support.

Living with Cystic Fibrosis - Site by a person with CF. Includes advice on hospitalizations, relationships, social life and growing up with CF. Also includes a discussion board.

CF Prescriber - Provides a place to search various databases for Cystic Fibrosis articles, links to other CF sites, a message forum and a wide variety of information on management of the disease.

Cindy's Friends - Walking for Cystic Fibrosis, Working for Cure Found - Information about Cystic Fibrosis, progress being made towards a cure, and fundraising efforts in Tennessee.

General Practice Notebook - Cystic fibrosis - Clinically-oriented information.

National Cystic Fibrosis Awareness Committee (NCFAC) - This committee exists to serve as an instrument for advancing the public's awareness of the genetic disease, Cystic Fibrosis. Site includes mission statement and message board.

The Spirit of Lo - Inspirational Book - Book about Cystic Fibrosis and the effects on the family. Tells the story of an ordinary family and their struggle with having a chronically ill child.

Cystic Fibrosis Medicine - Non profit web site which provides free information to professionals involved with the treatment of cystic fibrosis. An open access (PUBLIC) section is also available to both patients and family

cysticfibrosis.com - Internet community for cystic fibrosis patients, families and loved ones. Information on clinical trials, gene therapy, testing, associations, research and events.

Saving Russian Children with CF - Article about saving Russian children with CF.

Utah Valley Institute of Cystic Fibrosis - Promoting independent research to ameliorate cystic fibrosis

65 Roses - Cystic Fibrosis news, links and chat room.

Salvay Healthcare Ltd., UK - This site has been produced by Solvay Healthcare Ltd., and is designed to be a useful source of information for cystic fibrosis patients, parents, doctors and other carers.

Cystic Fibrosis: Gene to Product - The most frequently occurring mutation, delta-F508, is a single amino acid deletion in exon 10 which codes for a portion of the first nucleotide binding function (NBF-1) domain of the cystic fibrosis transmembrane conductance regulation protein. A list of other CF mutations is available.

Cystic Fibrosis Research Center - Provides support, information and answers about this disease. CF news, events, links and chat rooms.

Dream Holidays Charity - The Dream Holidays Charity helps families who have a child with Cystic Fibrosis, a genetic life threatening disease. We arrange holidays and wishes for these children with no cost to the family.

Home Page-Harminder - Details from an article "CFTR as a cAMP-Dependent Regulator of Sodium Channels". Also, what new treatments might devolop if the theory behind this article prove true.

IRRI SHARK's Page - The "65 roses" story.

A-Z Directory of Cystic Fibrosis Resources - Biomedical directory with listings of hospitals, charities, research, and information by topic and location.

BioSpace News: Cystic fibrosis - News on new developments with Cystic Fibrosis. Kept in an easy to use format with up-to-date links.

Tour For The Cure - Annual bike ride by a man with CF to raise awareness and funds.

University Place Professional Firefighters Union Local 2105 Fund-Raiser - Proud sponsor and an active fund-raiser for the Cystic Fibrosis foundation for 5 years - there are two annual events - Pizza Take Over Night at the Round Table Pizza Parlor on Bridgeport Way and Tee-Shirt sale.

The Great Strides Ride" -Charitable Motorcycle Ride and Raffle - Details on ride and how to donate.

Official Site for CFF Jack Buck Book Event - Jack Buck, A Collection of Poems and Stories, by Jack Buck. 100% of the proceeds from the sale of this book go directly to Cystic Fibrosis Foundation.

The Knickerbocker - Ride for CF - An annual cross-country bike ride to raise awareness and funds for CF (cystic fibrosis) research. This year Shan will ride through California, New Mexico, Arizona, Texas, Louisiana, Alabama, Mississippi, Georgia, and Florida.

Wish for Wendy 2002 - Softball tournament benefiting Cystic Fibrosis in honor of Wendy Carol Lipman. She was born on December 18, 1970 and died 15 days later on January 2, 1971. She died of complications from cystic fibrosis. The visionary behind this great event is Wendy's brother, Andy, who also has cystic fibrosis. His wish for Wendy is that more kids get to experience the life that she never had the chance to live.

Richard Shannon Lung Transplant Fund - Richard Shannon has Cystic Fibrosis. He is on the list for a lung transplant. A fund raiser is ongoing to pay for expenses beyond what insurance covers. Prayers and contributions are helpful.

Corrine's Pride a 5K run for Cystic Fibrosis - "Corrines Pride" is a non-profit organization and 5K race inspired by Corrine who was diagnosed with Cystic Fibrosis (CF). This 5K run is an annual event in Staten Island, NY.

Camp Jenney - Summer residential camp for all Nebraska children who have cystic fibrosis. An infirmary is staffed 24 hours a day with specialist physicians, nurses and respiratory therapists. Camp Jenney is a joint project of the lung association and Concerned Nebraskans for Cystic Fibrosis.

Camp Funshine Home Page! - A free one-week summer camp for kids, seven and up, with Cystic Fibrosis. The mission of Camp Funshine is to provide a fun, safe environment in which kids with Cystic Fibrosis can talk openly about themselves and their disease, and can care for their needs in an atmosphere of acceptance and support.

The Cystic Fibrosis Center Ltd, Dead Sea, Israel - Seasonal health camp on the Dead Sea. Information on staff, programs, photo gallery and newsletter.

Camp Wak-n-Hak - Overnight camp lasting one week for medically fragile children with cystic fibrosis. All programming and medical care included throughout the week. Horseback riding, swimming, canoeing, and creative cooking are offered and more. Campers need to bring their own medications. Camp is located at Camp Twin Lakes, Rutledge, Georgia.

Sunny Shores Sea Camp - Summer camp for kids with cystic fibrosis in the Florida Keys. All volunteers, including but not limited to Doctors, Nurses, Therapists and counselors and other staff, donate their time free of charge. The campers receive up to four CPT breathing treatments per day, as well as dozens of medicines and the special diet required to maintain weight and strength.

CF Rules OK - Mother of a girl with CF has published a book which describes the story of her daughter's life with Cystic Fibrosis.

Genevieve's Cystic Fibrosis Site - About a personal journey living with this disease, and alternative therapies used, besides antibiotics.

He is my Son - The author son's journey of life with Cystic Fibrosis, with links to C/F information. Also original poem written to him.

If You Ask James... - The personal website of a 31 year old man with CF. It provides current information about Cystic Fibrosis and links to other helpful sites.

Billycook.com - Billy Cook battled cystic fibrosis and died. The site generates funding for patients of this deadly disease.

Celine Supports Cystic Fibrosis - Celine Dion lost her niece to CF and has supported the cause since.

Lungs for Shawn - Site about Shawn Hunter a 27 year-old man with CF who is waiting for a double lung transplant. Includes a journal of what is happening with Shawn.

CF101 - Page by a woman with CF. Features links to various information on cystic fibrosis.

Cystic Fibrosis information - These pages are intended for world wide web as a resource of information on Cystic Fibrosis in English and Dutch they also link to other resources on Cystic Fibrosis.

cystic fibrosis - Site for those wanting to learn about end stage. Not for someone whose child has been recently diagnosed. By a woman waiting for a lung transplant.

The Cystic Fibrosis Web page of the Niagara Cystic Fibrosis Chapter Canada - Information from the Niagara Cystic Fibrosis chapter in Canada.

Cystic Fibrosis? Welcome to Brandon's World - Site about a boy with CF.

Cindy Lynn's Home Page - Site by girl with CF. Includes her hobbies, favorite music, favorite books and diagnosis story.

Frankie's home page - Biographical site by a man with CF who underwent a double lung transplant.

Welcome to Ricky's Page - About a little boy with CF.

Tildonk Fights Cystic Fibrosis - Site by a family from Belgum with a son with CF. Information on support from their community and fund-raising efforts. In English.

Sprinkle Triplets Home Page - Site for a set of triplets one has CF.

Bauer Page - Links and personal story of a woman with CF who has had two children.

Jake's Cystic Fibrosis Page - Cystic Fibrosis Page with the CFAM newsletter.

Susy Dirr's Web Page - A page about cystic fibrosis and organ donation

Janet Lynn Rippee personal page - Page for a little girl with cystic fibrosis.

Personal page for Aleeya - Page by a woman for her granddaughter who has cystic fibrosis.

Kathy the Little Greek Girl's Web Site - Site by Kathy known as "the Little Greek Girl" in some CF circles.

Angela's story about living with cystic fibrosis - Personal site by a girl with CF.

Cystic Fibrosis - Personal page by an aunt for her neice with CF.

Simon Stothard - Personal site with "bits" from family members.

Sandy Cochran - Site by a woman with CF - includes information on the disease.

Jacob Bartlett - Site for a Canadian boy with CF.

Brycen Johnson, - Site for boy with CF. Includes fund-raising items.

Mel Kotlyar - Personal page by a man with CF. Includes links to shop at various stores with a percent of the proceeds of sales going to the CFF.

Chazes CF pages - Site by a man with CF. Includes a list of symptoms and other information.

Sarah Yourman - Site by a girl with CF and Diabetes.

Chris Crocker - Site by a man with CF. Includes information on the disease, Great Strides, and an offer to help others build their own site on CF.

Sarah Griffith - Patient with CF in Memphis, Tennessee.

The Three Of Us - a cf novel - This novel is dedicated to the memory of Jason Merz, Heather Carpenter, and Passha Cline. May their childhood friends always remember them.

Anki Boström - Swedish family site with information on CF.

Crista Lint-Kloppenburg - Site by a Dutch woman with Cystic Fibrosis.

Welcome to Ami's Life's a Bowl o'Cherries Page... - Site by a woman with CF.

vital statistics - Site by an English man with CF.

Yance Matthews - Site by a young man with CF.

David's Pages - Site by an English man with Cystic Fibrosis.

Seth Melde - Site for a boy with Cystic Fibrosis.

Julie - Site by a woman waiting for a lung transplant.

CYSTIC FIBROSIS FOR KIDS - This site is for children with cystic fibrosis designed by a man from the Netherlands with CF.

All About Kurt - Site by a Canadian man with Cystic Fibrosis.

Madelyne & Ethan Home Page - Page for a brother and sister both with CF.

Page for Someone Special to Us All - Memorial page for woman with CF.

Memorial page for Dana Jarrett - Page (obituary) for a woman who lost her life to cystic fibrosis.

A Message From Above Cystic Fibrosis Awareness - Memorial page for two sisters who lost their battle with cystic fibrosis.

Tina Jensen - Memorial page for woman who died with CF at the age of 28.

Kate McCloughan Krzyzak - Obituary site.

Cute Petite Chic - A Cystic Fibrosis Web - Basic information with good description of sweat test, memorial page for a girl lost to CF at age 9, details of her last days and link to give in her memory through Great Strides.

An Angel Among Us - Memorial/dedication site for a young woman who lost her life to cystic fibrosis.

In Memory of April... - Memorial for a young woman who lost her life to CF after a lung transplant.

Eulogy for Jef Baird - Eulogy for a young man who lost his life to CF.

University of Wisconsin Cystic Fibrosis Center - Provides information on staff, newsletter and CF Cookbook with high calorie recipes.

Providence Cystic Fibrosis Center - Ran by Dr. Bohdan Pichurko. Includes staff biographies, contact information, events, and latest developments in treatment.

The Cystic Fibrosis Center at Stanford - Information on services provided, ongoing clinical trials, news from and about individuals with CF and basic information.

Israel's CF Center - National Center for Cystic Fibrosis at the Chaim Sheba Medical Center, Tel Hashomer, is the largest center in Israel. Contact information and hours included.

Cystic Fibrosis - Page for Monash University, Department of Paediatrics. Admission policy, treatment, sweat test, etc.

The Cystic Fibrosis Center at Rush Children's Hospital - Offers a state-of-the-art multidisciplinary team approach to the care and treatment of infants, children, adolescents and adults with cystic fibrosis.

Cystic Fibrosis Message Board - Forum for support, and to discuss information, concerns, and treatment options.

How To Handle Living with Cystic Fibrosis

Michigan Pulmonary Disease Community, Inc. - Organization dedicated to enhancing lives of children and adults with Cystic Fibrosis.

Cystic Fibrosis Index of On-Line Resources - The CysticFibrosis Index of On-Line Resources is intended to be an exhaustive guide toAll on-line web pages, news groups, FAQs, chat rooms, and mailing listsassociated with Cystic Fibrosis.

Cystic Fibrosis Community - Active message board and chat for caregivers and individuals with Cystic Fibrosis. Share support, give advice, offer coping skills. Moderated by volunteers.

Cystic Fibrosis Information - Site with information on Cystic Fibrosis treatments, definitions, links and coping with the disease. Extensive information on resources in the State of New Jersey including phone numbers.

International Cystic Fibrosis Support Group - Purpose is to disseminate information concerning Cystic Fibrosis, to give support to those involved with the disease, to provide a forum for the discussion of topics relative to Cystic Fibrosis, to give the members the opportunity to have an exchange of their ideas and interests not directly related to Cystic Fibrosis, and to provide contact with others who have or have an interest in Cystic Fibrosis.

CFTR Review Page - A website about CFTR, the protein involved in cystic fibrosis.

Cystic Fibrosis Mutation Data Base - Database of Cystic Fibrosis mutations plus other relevant information on these mutations.

European Working Group on CFTR Expression - The purpose of this website is to provide information which may be of interest to researchers in the fields of CFTR expression and Function.

About TOBI and the Management of Cystic Fibrosis - Information on Tobramycin Solution for Inhalation (TOBI) for pseudomonas infection, by pharmaceutical agency.

Cystic Fibrosis Services - A subsidiary of the Cystic Fibrosis Foundation and a national pharmacy that specializes in providing medications to individuals with cystic fibrosis (CF). Since 1988, CF Services has ensured the availability of CF medications to the CF community at the lowest possible cost.

HHCS Health Care - Cystic Fibrosis Services, pharmacy for cystic fibrosis.

Ambry Genetics - Testing for CF mutations. Offers a comprehensive screening of CF mutations, plus Poly T Variant analysis, and direct DNA sequencing of exon.

Cystic Fibrosis Genetic Testing - Features testing details, patient information, and physician's guide.

Molecular Genetics Testing Laboratory - The Ashkenazi Jewish Genetic Disease Screen tests for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome , Familial dysautonomia and Fanconi anemia. Among Ashkenazi Jews, the carrier frequencies and disease incidences for Cystic Fibrosis is 1:3600. The Molecular Genetics Laboratory performs multiplex assays to screen for all seven diseases in individuals at risk.

Cystic-L - Cystic fibrosis information and support, including a vibrant on-line community, via email, a Handbook of information and resources, photos of CFers, a CF Shop and bookstore.

Cystic Fibrosis WebRing - Connects over 50 websites. All sites contain information about Cystic Fibrosis and personal experiences of people living with CF.

Cystic Fibrosis Foundation - Seeking the means to cure and control cystic fibrosis and to improve the quality of life for those with the disease. Providing information about the disease, treatment options, clinical trials, research, and public policy.

Boomer Esiason Foundation - Fighting Cystic Fibrosis - A resource for those affected by this disease. Includes details about the organization, fund raising, events and a newsletter.

Canadian Cystic Fibrosis Foundation - Support and resources. Located in Toronto, Ontario.

CCFF Sudbury Chapter - Website of the Canadian Cystic Fibrosis Foundation Sudbury Chapter. Provides information on local events and information about Cystic Fibrosis.

Reaching Out Foundation - Provides information on the programs provided by this foundation, a personal story of a person with CF who had a double lung transplant, general information on CF, and how you can donate.

Lungs for Life Foundation - Provides financial assistance to cystic fibrosis and lung transplant patients.

The Victoria Foundation - Helps young adults with Cystic Fibrosis and assist parents in caring for their son or daughter at home, with the support of the Southampton CF adult team.

Milan Foundation - Milan Foundation was created in the name of Milan Brown who, at the age of 3 1/2, was diagnosed with Cystic Fibrosis. Site includes a calendar, stories and poems about CF, how to donate, and the foundation's mission.

Victoria Chapter, Canadian Cystic Fibrosis Foundation - The Victoria Chapter, one of 51 Chapters of the Canadian Cystic Fibrosis Foundation, works to provide a brighter future for every person born with cystic fibrosis. It assists in the quest to find a cure or control for the disease.

Sweat Chloride Testing - This web site is meant to be a resource for laboratories that are conducting sweat tests. Patients or parents who have questions should direct those questions to their physician.

European Cystic Fibrosis Society - ECFS, aims to achieve the best possible treatment and the highest quality of life for the patient with cystic fibrosis by the development and distribution of knowledge in the field of cystic fibrosis

Cystic Fibrosis European Network, cfnetwork - The European network brings together all parties involved in the same quest, the fight against CF, with the aim of making information more easily available to everybody. The Thematic Network on CF creates a unique platform for scientists involved in fundamental CF research, for the more than 160 genetic diagnostic laboratories, for CF associations of families, patients and clinicians, ethical, legal and IPR experts and representatives of the industry. This European Forum for cystic fibrosis, wherein all involved, interact, exchange and collaborate to achieve the same goals.

Cystic Fibrosis Nurses: the International Specialist Group - Organization whose goals include setting and promoting high standards of nursing practice in the treatment of persons with Cystic Fibrosis.

I.C.F.M.A. - A not-for-profit organization for increasing cystic fibrosis awareness.

Cystic Fibrosis Victoria Inc - Information about Cystic Fibrosis and the organisation, online chat room and message board.

Cystic Fibrosis Worldwide - International Association of Cystic Fibrosis Adults web site and International Cystic Fibrosis Mucoviscidosis Association.

Cystic Fibrosis Victoria Inc - Current information on Cystic Fibrosis, Cystic Fibrosis Victoria the organisation, online chat room, message board, '65 Roses Magazine', SSL Secure Online Shop and donations, events

Cochrane Cystic Fibrosis & Genetic Disorders Review Group at the Dept of Child Health: 1 - Cochrane Cystic Fibrosis & Genetic Disorders Group comprises an international network of health care professionals, researchers and consumers preparing, maintaining, and disseminating systematic reviews of randomised control trials in the treatment of cystic fibrosis and other genetic disorders.

North American Cystic Fibrosis Conference in New Orleans - Information on program and location.

San Diego Bicarbonate Conference - HCO3 and Cystic Fibrosis - Conference photos, list of speakers and abstracts.

Williams Syndrome Foundation - Seeks to create or enhance opportunities in education, housing, employment and recreation for people who have Williams Syndrome and other related or similar conditions.

Eric's Williams Syndrome Site - A personal site with information and links about this disease.

Williams Syndrome Association - A rare genetic condition (estimated to occur in 1/20,000 births) which causes medical and developmental problems.

Moylan Family Website - An Irish family's experience of Williams Syndrome.

Williams Syndrome - Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

Pediatric Database - A definition of Williams syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.

NORD - Williams Syndrome - Offers alternative names, a general discussion and resources.

National Library of Medicine - A list of synonyms of Williams syndrome, a summary and major features.

Williams Syndrome - About the author's daughter, Sereena Celeste Beech, who has this syndrome.

A Music Camp for Those Afflicted but Gifted, Too - New York Times feature article about the Belvoir Terrace summer music camp program for people with Williams syndrome.

Alpha-1 Antitrypsin Deficiency Association - Information about this non profit organization as well as the disorder, research, membership and contact details.

Alpha One Foundation - Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency.

Alpha 1 Awareness Alliance - A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency. Includes news, reports and links.

Understanding Alpha-1 Antitrypsin Deficiency - Information on signs and symptoms of this disorder, as well as risk factors and treatment.

MedicineNet - An Alpha-1 antitrypsin deficiency article with details such as what it is, normal lungs and how they work, smoking, risk factors, how it is inherited, signs, symptoms and treatment.

University of Cambridge - Laboratory in Cambridge, UK, researching the cause and treatment of alpha1-antitrypsin deficiency.

Patient UK - A list of resources and support for persons living in the UK who are interested in Alpha-1 Antitrypsin Deficiency.

Nail Patella Syndrome - A patient-written site offering relevant medical information, photos, x-rays, discussion/support group, links to research and guest books where over 350 people have told their NPS stories.

Nail Patella Syndrome Worldwide - The home page of Nail-Patella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. Includes information on the syndrome and the work of the organization.

David's NPS Page - A British page written by a spouse and parent of Nail Patella syndrome patients, giving a brief description of the syndrome and some links to further information.

Medstudents - A review about nail-patella syndrome, including the genetics, incidence, pathophysiology, signs and symptoms, and prognosis.

U-M Kellogg Eye Center - Nail-patella syndrome: definition and treatment information, including surgery. A discussion about the strong evidence of a link between glaucoma and NPS.

Readers Digest Health - A general discussion about nail-patella syndrome, including its alternate names.

John Hopkins Medical Institution - NPS - Information about nail patella syndrome, what it is, a look at the gene, and links to resources and support groups.

Von Hippel-Lindau Family Alliance - Information about the organization and the disease. Includes FAQs, newsletter, handbook, meeting schedules and support group data.

Radiology: Von Hippel Lindau Disease - Genetic, clinical and imaging features from the NIH.

Family Village - Links to chat rooms, web sites and information about Von Hippel Lindau's disease.

Ocular Manifestations of Von Hippel-Lindau Disease - An article by Emily Chew, M.D., National Eye Institute.

The Human Gene Map - Description of the characteristics and the development of Von Hippel-Lindau disease.

Von Hippel-Lindau Disease - Information sheet on this disease compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

BWSN: Beckwith-Wiedemann Syndrome - Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group.

The CaF Directory - A description of beckwith-wiedemann syndrome, features, and possible complications. Also information about a support group.

Keep Kids Healthy - A discussion of beckwith-wiedemann syndrome, its features and treatments.

National Library of Medicine - weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features.

Adam.com: An Overview - A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors.

Coffin-Lowry Syndrome Foundation - Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details.

Coffin Lowry Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

NORD - General information about coffin lowry syndrome, its alternative names and further resources.

Missouri Southern State College - Coffin lowry syndrome, an in depth article by Terry Patterson along with some images.

National Library of Medicine - Coffin-Lowry syndrome, the synonyms, a summary and major features.

Reader Digest Health - General information about The Coffin-Lowry Syndrome Foundation.

Pediatric Database - A look at crigler-najjar syndrome, a definition, epidemiology, pathogenesis, clinical features, investigation and management.

Davidson College Biology Department - A brief description of crigler-najjar syndrome along with some links for further study.

Austin Health Information - An overview of crigler-najjar syndrome including symptoms, treatment and prevention.

Crigler-Najjar Disease - Bi-lingual site with information and links on this disease.

NORD - General information about crigler najjar syndrome type I, followed by further resources.

Medic-Planet - A description of familial hypercholesterolemia, with a look at the causes, incidence, symptoms, treatment and outlook.

Yahoo Health - An overview of familial hypercholesterolemia including, symptoms, treatment and prevention.

MedicineNet - A brief article about familial hypercholesterolemia.

When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? - JAMA. 281;180-181, Article by Basil M. Rifkind, MD, FRCP; Beth Schucker, MS; David J. Gordon, MD, PhD.

Joubert Syndrome Foundation - Organization, conferences and contact details. FAQs about the disease, information center and resources.

Joubert Syndrome - Information sheet compiled by NINDS.

National Library of Medicine: Joubert syndrome - Synonyms, a summary and a list of major features for this disorder.

Readers Digest Health - A brief discussion about joubert syndrome, its alternate names and further resources.

TheFetus.net - A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis.

Floating Harbor Syndrome Support Group - Provides a description, including a list of symptoms, things to do and links to other resources. Also contact detail.

National Library of Medicine: FHS - Floating-harbor syndrome, the synonyms, a summary and a list of major features.

The CaF Directory - A brief discussion about floating harbor syndrome, with some history and information about a support group located in Essex, United Kingdom.

Readers Digest Health - A general discussion about floating harbor syndrome and some resources for further information.

Hailey-Hailey Disease - Information about and patient support for this rare genetic disease affecting the skin. Includes signup for a mailing list, guestbook for visitor comments, and links to related sites.

Hailey Hailey Disease (Familial Benign Chronic Pemphigus) - British Association of Dermatologists information sheet describing the symptoms and management of this inherited skin condition.

HSPinfo.org - Information about hereditary spastic paraplegia, and disability resources. Includes newsletters, news, announcements, research and support.

Hereditary Spastic Paraplegia - In depth look at this disease by John K. Fink, M.D., including genetic analysis, clinical features and FAQs.

Hereditary Spastic Paraplegia - HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke.

The FSP Support Group - For people suffering from Familial Spastic Paraplegia. Includes a newsletter, discussion forum, links, and contact details.

GeneClinics: An Overview - In depth details about hereditary spastic paraplegia. Includes a summary, definition, categories, diagnosis, genetic counseling and resources.

MCW Healthlink: HSP - An article about hereditary spastic paraplegia, also called familial spastic paralysis.

National Library of Medicine: DGS - DiGeorge syndrome, the synonyms, a summary and list of major features.

NCBI Genes and Diseases - An article about DiGeorge syndrome with a description, causes, research and treatment.

Dr. Greene's HouseCalls - The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome.

JMFWorld.org - DiGeorge Syndrome - Details the incidence, signs, symptoms, diagnosis, and treatments for this disease.

Yahoo! Clubs VCFS Family Support - Join, post and read mail for this group which concerns DiGeorge Syndrome and Velo-Cardio-Facial Syndrome.

e-Medicine: Genetics and Metabolic Disease: MKS - Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up.

The Meckel-Gruber Foundation - This foundation's goal is to help fund research, education and study regarding Meckel-Gruber Syndrome.

NORD - Meckel Syndrome - A general discussion, alternate names along with further resources.

Human Genome Mapping Project - A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica.

Sotos Syndrome Support Association - Online community for education of professionals and families and to exchange ideas, gather research, and help one another cope. Quarterly newsletters, reference library, annual meetings, and conferences are available to members and professionals.

Soto's Syndrome - Also known as cerebral gigantism, an information sheet compiled by NINDS.

MCW Healthlink - An article about soto's syndrome with an explanation of what it is, the features, symptoms and the prognosis.

About com Guide Laura L. Jelliffe, Ph.D. - Symptoms, diagnosis, and treatment of Soto's syndrome. Information on research, community outreach and support.

DrHull - An article about hemihypertrophy, what it is, the features, follow up and prognosis.

Hemihypertrophy - A description from International Birth Defects Information Systems.

Hemihypertrophy - For patient and family, support and information regarding this disease. Related links and mailing list.

Med Help: Hemihypertrophy - A doctor answers a question from a mother who has a four month old baby just diagnosed with this disorder.

Urea Cycle Disorders - Information, medical links and a message board. The true story of a one family's struggle with this illness.

National Urea Cycle Disorders Foundation - Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information.

The CaF Directory - A description of fatty acid oxidation disorders and further resources.

Fatty Oxidation Disorders - Informational site provides details on newborn screening, on numerous diseases, medical information and support resources such as a newsletter and email List.

THCME Medical Biochemistry Page: Fatty Acid Oxidation - An introduction, mobilization of fat stores, oxidation reactions, alternative oxidation pathways, regulation of fatty acid metabolism, clinical aspects of fatty acid metabolism, ketogenesis, regulation of ketogenesis, and clinical significance of ketogenesis.

Health Care Professionals' Guide to Newborn Screening - General information on fatty acid oxidation.

National Library of Medicine - Bloch-sulzberger syndrome, the synonyms, a summary and major features.

MCW Healthlink: Incontinentia Pigmenti - An article about this rare genetic disorder, its stages and symptoms.

Incontinentia Pigmenti - Informational sheet compiled by National Institute of Neurological Disorders and Stroke.

Vanderbilt Medical Center - An article about incotinentia pigmenti.

Readers Digest Health: IP - A general discussion about incontinentia pigmenti, with alternate names and further resources.

Incontinentia Pigmenti International Foundation - Details about the organization that is dedicated to research into the causes and treatment of this genetic disease. Includes information about the disease, genetics and genes.

Incontinentia Pigmenti: All About Anna - The authors' daughter was diagnosed with IP 6 weeks after birth. This is her story.

International Joseph Disease Foundation - Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease.

Machado-Joseph Information - A definition of joseph disease with a look at the symptoms, diagnosis, how it is inherited and research.

Pediatric Database - In depth look at this machado-joseph disease, starting with a definition, epidemiology, pathogenesis, clinical features, investigation and management.

MJD: Getting Help - Information about machado-joseph disease, genetic counselling, access to medical care and improving life quality.

MJD Fact Sheet - In depth look at machado-joseph disease with some resources for further reading.

Machado-Joseph Disease Fact Sheet - Developed by the National Institute of Neurological Disorders and Stroke (NINDS).

Lesch-Nyhan Disease National Registry - Includes FAQs, research, treatment, education, and support for LND.

NINDS: Lesch-Nyhan Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.

Baylor College of Medicine: Genetics Research - Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D.

Mylifepath - Lesch-Nyhan Syndrome, a definition, description, a look at the causes and symptoms, diagnosis, treatment, prognosis, prevention and further reading.

Lowe Syndrome Association - Information about this disease and the international organization that deals with it.

600 Mile Walk for Lowe Syndrome - Information about the walk as well as the disease. Details about the different ways one can support the cause.

National Library of Medicine: LS - Lowe syndrome, the synonyms, a summary and list of major features.

Pediatric Database - An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management.

Readers Digest Health - Lowe Syndrome, its alternate names, a general discussion and resources.

Moebius Syndrome Foundation - Bringing together information from and links to medical and lay support for those affected by Moebius syndrome.

Mobius Syndrome - Also known as congenital facial diplegia, an information sheet compiled by NINDS.

MCW Healthlink: Mobius Syndrome - Details about this disease, including what it is, the causes, symptoms and treatment options.

About.com with Laura L. Jelliffe, Ph.D. - Symptoms, diagnosis, and treatment of mobius syndrome. Information on research, community outreach and support.

Readers Digest Health - A list of alternate names for mobius syndrome, along with a general discussion and resources.

McArdle's Disease Resources - Information, resources, and contacts for those affected by this disease or any of the glycogen storage diseases.

University of Texas Southwestern Medical Center at Dallas - An article about a patient with McArdle's disease.

Alpha1 Antitrypsine Deficiency - One man's perspective and journey with A1AD and a list of links and other resources from the internet.

Ashly's Skeletal Dysplasia - A mom describes her daughters disorder which is thought to be a metabolic disease similar to mucopolysachharisdoses. Also links to other related sites.

Treacher Collins Syndrome - A Personal View - UK based website, containing information about the disorder, with helpful links and discussion forum.

Daniels Neurofibromatosis page - A child living with neurofibromatosis and optic glioma with links.

Maddy's Page - The story of Madison Wigglesworth who has hurler syndrome. Includes photo album and links to informative sites.

Zara Fox - Read and learn about a little girl that has Coffin-Sirris Syndrome.

Taryn's World: About Switches - Personal page for kids and parents about genetic disorders, especially mannosidosis.

GotGod?com - A family and memorial website dedicated to their son, Nathan Philip Batman, who passed away as a result of Trisomy 13, or Patau's Syndrome.

Robert Kenneth Picklesimer - Born with Jeune Syndrome or Asphyxiating Thoracic Dystrophy in Louisville Kentucky. He underwent corrective surgery in San Antonio Texas, called the Titanium Rib Project.

Joy's Page - Personal account about a daughter having Opitc Nerve Hypoplasia, Septo-Optic Dysplasia and had either a Congenital stroke or has schizencephaly.

XXXXY Syndrome - Information on this rare chromosomal abnormality.

Story of Robert Purkis - A small boy's health problems, possibly Leigh's Syndrome, and how his parents have helped him improve his quality of life.

Hereditary Angioedema Support Group - A non profit Organization dedicated to those families that are touched by a rare blood disease known as Hereditary Angioedema

E-Medicine: HAE - An in dept look at hereditary angioedema beginning with an introduction, clinical features, differentials, work up, treatment, medication and follow up.

MedicineNet.com - Medical Dictionary - A brief article about hereditary angioedema.

Reader Digest Health - Hereditary Angioedema, a general discussion, alternate names and resources.

Adam.com: An Overview - A definition of hereditary angioedema along with a look at the causes, incidence and risk factors.

Canadian Opitz Family Network - A description of Opitz G/BBB Syndrome.

Opitz G/BBB Family Network - Support network for family members whose children have Opitz-G/BBB syndrome.

NORD - Opitz Syndrome - A look at the alternate names, a general discussion and resources.

National Library of Medicine: OS - Opitz syndrome, the synonyms, a summary and a list of major features.

Zach's Opitz Syndrome Site - Offers information, a family's experience with this syndrome and links to the Opitz Family Network.

NORD - Aarskog Syndrome - A look at the alternate names, a general discussion and resources.

National Library of Medicine - Aarskog syndrome, the synonyms, a summary and a list of the major features.

Pediatric Database - A definition of Aarskog syndrome and the epidemiology, pathogenesis, clinical features, investigations and management.

Human Genome Mapping Project - A list of features for Aarskog syndrome.

OMIM: National Center for Biotechnology Information - Clinical synopsis for Aarskog syndrome.

Family Village - Aarskog Syndrome - Offers links for support and information concerning this disease.

NORD - Aase Syndrome - A look at the alternate names, a general discussion and resources.

Pediatric Database - A definition of Aase syndrome,the epidemiology, pathogenesis, clinical features, investigations and management.

Adam.com: An Overview - A definition of Aase syndrome with a brief discussion on causes, incidence and risk factors.

Ablepharon Macrostomia Syndrome - A personal site with information and links about this disease.

NORD - Ablepharon Macrostomia Syndrome - A look at the alternate name, a general discussion and further resources.

Human Genome Mapping Project - A list of features for Ablepharon-Macrostomia Syndrome.

OMIM: National Center for Biotechnology Information - A clinical synopsis for Ablepharon-Macrostomia syndrome.

NORD - Craniofrontonasal Dysplasia - Offers alternate names, a general discussion and resources.

National Library of Medicine: CNFS - Offers synonyms of craniofrontonasal syndrome, a summary and a list of features.

OMIM: National Center for Biotechnology Information - A clinical synopsis of Craniofrontonasal Dysplasia.

Glutaric Aciduria Type 1 - Information and links for children with GA1.

IOGA: International Organization of Glutaric Acidemia - Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links.

NORD - Glutaricaciduria I - Offers alternate names, a general discussion and resources.

Pediatric Database - A definition of glutaric aciduria, epidemiology, pathogenesis, clinical features, investigations and management.

PXE International - The comprehensive source for pseudoxanthoma elasticum research and world wide activities.

NORD - Pseudoxanthoma Elasticum - Offers alternative names, a general discussion and resources for PXE.

VhiHealth-e - A definition of Pseudoxanthoma elasticum followed by a description, causes and symptoms, diagnosis, treatment options, prognosis and prevention.

MyLifePath - An in depth look at Pseudoxanthoma elasticum.

Laurence Moon Bardet Biedl Society - Fully accessible site for people with LMBB, their families, friends, carers and interested professionals. Opinions, news, views, research, updates, and contact details.

NORD - Laurence Moon Syndrome - Offers alternative names, a general discussion and further resources.

Pediatric Database - A definition of Laurence-Moon syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management.

National Library of Medicine - A look at the former names of Laurence-Moon syndrome, a summary and a list of clinical features.

International Society for Mannosidosis & Related Diseases - Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders.

NORD - Mannosidosis - Offers alternative names, a general discussion and resources.

Zellweger Syndrome - Information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

Justin Comeau - A personal page about a little boy who has Zellweger syndrome. Offers family pictures, information about the disease and the personal story of Justin.

MCW Healthlink - An article about Zellweger syndrome, explaining what it is, the symptoms and prognosis.

NORD - Zellweger Syndrome - Offers alternate names, a general discussion and resources.

Pediatric Database - A definition of zellweger syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management.

NORD - Weaver Syndrome - Offers alternate names, a general discussion and further resources.

National Library of Medicine - Synonyms of Weaver syndrome, a summary and a list of major features.

Pediatric Database - A definition of Weaver syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management.

Pediatric Database - A definition of Waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management.

NORD - Waardenburg Syndrome - A general discussion about this disorder, followed by further resources.

Human Gene Map - An article about Waardenburg syndrome and its features, statistics and the gene pax3.

National Library of Medicine - Offers synonyms, a summary and a list of major features.

The CaF Directory - Information about the ectodermal dysplasia disorders, the inheritance patterns and pre-natal diagnosing.

Andy - Describes the health condition of ANDY who was born with ectodermal dysplasia with immune deficiency caused by a mutation on the fourth part of the NEMO gene.

National Foundation for Ectodermal Dysplasia - ED organization based in North America offering information/advice to individuals and supporting scientific research. Includes a newsletter, publications, FAQs and a list of services.

The Ectodermal Dysplasia Mailing List - Includes instructions on joining the list, FAQs and links to further resources.

Ectodermal Dysplasia Society - Information about the organization as well as the ED condition. Includes links, news articles and contact details.

NORD - Hypohidrotic Ectodermal Dysplasia - Offers synonyms, a general discussion and resources.

NORD - Costello Syndrome - The synonyms, a general discussion and further resources.

Yahoo! Groups - An email group about Costello syndrome. Join, post and read mail.

MedHelp - Details about the International Costello Syndrome Support Group. Includes contact details.

National Library of Medicine - Dubowitz syndrome, a look at the synonyms, a summary and list of major features.

Pediatric Database - A definition of Dubowitz syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.

Yahoo! Groups - An email support group for those interested in Dubowitz syndrome. Join, post and read mail.

MedHelp - Details about NE Dubowitz Syndrome Support Group. Includes contact information.

Health Library - Dubowitz Syndrome - The synonyms of this disorder with a general discussion and further resources.

Velo-Cardio-Facial Syndrome Educational Foundation - Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information.

Velo-Cardio-Facial Syndrome (VCFS) - Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, SUNY Upstate Medical University (USA).

NORD - Velocardiofacial Syndrome - A list of the synonyms, a general discussion and further resources.

SAIDA, - A definition of Velo-Cardio-Facial Syndrome along with a support group in Johannesburg.

Yahoo! Groups: VCFS Family Support - Join, post and read mail for this group which concerns DiGeorge Syndrome and Velo-Cardio-Facial Syndrome.

Usher Syndrome - A description of this disease from Retinal Preservation Foundation of South Africa.

A-Z Deafblindness - An in depth article by Mary Guest, Head of Usher Services at Sense, about Usher syndrome. Includes detailed description of what it is, the symptoms, genetics, transmission, the problems associated with it and what can be done.

NORD - Usher Syndrome - Includes the synonyms, a general discussion and further resources.

Genomelink Database - Links to information and resources for Usher syndrome.

TAR Syndrome Support Group - For families of children born with this rare disorder.

TAR Syndrome - A personal page about this disorder including links to information.

NORD - Thrombocytopenia Absent Radius Syndrome - Offers the synonyms, a general discussion and further resources.

Pediatric Database - A definition of TAR syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.

The Sturge-Weber Foundation - A support site for individuals and professionals dealing with Sturge-Weber syndrome, port-wine stains and Klippel Trenaunay. The Foundation acts as clearing house for information and a focus for research.

NORD - Sturge Weber Syndrome - Offers a list of synonyms, a general discussion and further resources.

Pediatric Database - A definition of Sturge-Weber syndrome, the epidemiology, pathogenesis, pathology, clinical features, investigations and management.

Prune Belly Syndrome Network - Devoted to health education, information and support for the person with the condition as well as their friends, families or the health professionals who treat them. Also known as Eagle-Barrett syndrome.

NORD - Prune Belly Syndrome - Offers a list of synonyms, a general discussion and further resources.

Pediatric Database - Offers a definition of Prune Belly Syndrome, the epidemiology, pathogenesis, pathology, clinical features, investigations and management.

Robinow Syndrome Foundation - Details about the organization as well as the disease. Includes general information, a survey, newsletter and photos.

National Library of Medicine - The synonyms of Robinow syndrome, a summary and a list of major features.

NORD - Robinow Syndrome - Offers a general discussion, the synonyms and further resources.

Yahoo! Groups - A new email group for sharing and learning about Robinow syndrome. Join, post and read from this site.

The CaF Directory - A definition of Silver Russell syndrome, its inheritance patterns, and pre-natal diagnosing. Also lists a support group in the United Kingdom.

NORD - Russell Silver Syndrome - Offers a general discussion, the synonyms and further resources.

NINDS: Schizencephaly - Information sheet compiled the National Institute of Neurological Disorders and Stroke.

Pediatric Database - A definition of schizencephaly, the epidemiology, pathogenesis, clinical features, investigations and management.

Smith Lemli Opitz Syndrome - Advocacy and exchange. Includes a detailed description, diagnosis, the natural history, biochemistry, genetics, treatment and contact details.

NORD - Smith Lemli Opitz Syndrome - Offers a brief description, the synonyms and further resources.

Emergency Medicine - An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis.

The CaF Directory - A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom.

NORD - Smith Magenis Syndrome - Offers the synonyms, a general discussion and further resources.

Parents and Researchers Interested in Smith-Magenis Syndrome) - Details about the organization and its mission as well as the disease. Includes an introduction, diagnosis, parent's corner, meet other people with SMS and educational considerations.

Baylor College of Medicine - A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts.

The CaF Directory - A definition of Shwachman syndrome, its inheritance pattern, pre-natal diagnosing and a support group in the United Kingdom.

NORD - Shwachman Syndrome - Offers a general discussion, the synonyms and further resources.

Shwachman Syndrome - A mothers story to diagnose this disorder before a team of doctors could.

Pediatric Database - A definition of Shwachman-Diamond syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.

Shwachman-Diamond Syndrome International - Support organization helping the victims of this disease. Provides a network for families to receive information, advocacy, and emotional support, and keep abreast of the most current medical information available.

Shwachman-Diamond America - Profiles SDA, a nonprofit that educates doctors and families about shwachman-diamond syndrome and also supports research.

Proteus Syndrome Foundation - Support and education for families and professionals. Includes abstracts, brochures, glossary, links and newsletters.

The CaF Directory - A definition of Proteus syndrome, its inheritance pattern, pre-natal diagnosis and a support group.

NORD - Proteus Syndrome - Offers synonyms, a general discussion and further resources.

Proteus Syndrome - From Readers Digest Health some general information and alternate names as well as further resources.

NORD - Popliteal Pterygium Syndrome - Offers synonyms, a general discussion and further resources.

National Library of Medicine - Includes the synonyms of multiple pterygium syndrome, a summary and the major features.

NORD - Pallister Killian Mosaic Syndrome - Offers the synonyms, a general discussion and further resources.

Pediatric Database - A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.

National Library of Medicine - The synonyms of Killian syndrome, a summary and a list of major features.

National Library of Medicine - Pallister-Hall syndrome, its synonyms, a summary and a list of major features.

Yahoo! Groups : Pallister-Hall Syndrome - Details and instructions for joining, posting and reading the mail for this email support group.

NORD - Pallister Hall Syndrome - Offers the synonyms, a general discussion and further resources.

Pallister-Hall Syndrome: A Layman's Guide - For PHS patients, their care givers, and medical practitioners.

The Noonan Syndrome Support Group - Information about this organization as well the disease itself. Offers news, events, a survey, a newsletter and further resources.

National Library of Medicine - Includes the alternate names, a summary and a list of major features for Noonan syndrome.

Pediatric Database - A definition of Noonam syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.

The CaF Directory - A description of Noonan syndrome, its inheritance patterns and pre-natal diagnosing.

Genomelink Database - Links to information and resources for Noonan syndrome.

eMedicine - Noonan Syndrome : Article by Jennifer Ibrahim, MD - Thorough summary of history, diagnosis, and treatment.

Birth Defects Foundation: Noonan Syndrome - History of the Foundation's involvement with Noonan's. Printable booklet and newsletter.

Noonan Syndrome - Story of 6-year-old Becky, with factsheet and resources.

Noonan Syndrome - by Michelle Ellis - Account of her life with the disorder.

NORD - Noonan Syndrome - Offers the synonyms, a general discussion and further resources.

Emergency Medicine - A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up.

Cowdens Syndrome Support Group - Offers information and message boards for families and patients affected by the disease.

Cowden Syndrome - A CHORUS notecard document about this syndrome.

Lysosomal Diseases New Zealand - Information, support and advocacy for families affected by Lysosomal Storage Diseases, a group of rare genetic diseases.

Genetic Interest Group - Information about this UK umbrella group of organizations working together to improve services for people with genetic disorders. A notice board, education, services and links are provided.

Hereditary Disease Foundation - Information about this non profit organization, news, newsletters, recommended reading and contact details.

Genetic Information and Patient Services, Inc (GAPS) - Links to online definitions, information sites, and support groups for genetic disorders and birth defects.

Australian MPS & Related Diseases Society - Informs and support those affected, directly or indirectly by an mucopolysaccharide or related disease. Offers information regarding each disease, a discussion forum, a picture gallery and news of events.

Hereditary Hemorrhagic Telangiectasia Foundation International, Inc. - Provides patients, families, and doctors with educational information and fosters an exchange of information about the diagnosis and treatment of HHT between patients, physicians, researchers, genetic counselors, agencies, educators, and the general public.

Your Genes Your Health - Offers a DNA Learning Center's multimedia guide to genetic, inherited disorders: Fragile X syndrome, Marfan syndrome, cystic fibrosis and hemophilia are discussed in detail.

NORD - Sanfilippo Syndrome - Offers a list of synonyms, a general discussion and further resources.

Ben's Dream - Information about a foundation dedicated to increasing awareness of Sanfilippo Syndrome and raising funds to support research aimed at finding a cure. Includes a newsletter.

Pediatric Database - Offers a definition, the epidemiology, pathogenesis, clinical features, investigation and management.

MPS III: Sanfilippo Syndrome - Information, including the causes, different forms, the inheritance and how the disorder progresses.

Pediatric Database - Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management.

eMedicine - An in depth look at Propionic acidemia.

NORD - Acidemia, Propionic - Includes the synonyms, a general discussion and further resources.

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