site URL - http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html
Site description: Includes the synonyms, a summary and the major features.
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| LINK | URI & TITLE | DESCRIPTION & TOPIC | |
| Previous 10 | The CaF Directory | http://www.cafamily.org.uk/Direct/s24.html The CaF Directory | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Shwachman_Syndrome A definition of Shwachman syndrome, its inheritance pattern, pre-natal diagnosing and a support group in the United Kingdom. |
| Previous | NORD: Proteus Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Proteus%20Syndrome NORD: Proteus Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Proteus_Syndrome Offers synonyms, a general discussion and further resources. |
| Random 1 | Christiansburg Rescue Squad | http://www.christiansburgrs.org/ Christiansburg Rescue Squad | Top/Health/Public_Health_and_Safety/Emergency_Services/Medical/Ambulance_Companies/North_America/United_States/Virginia Serving Montgomery County. Includes history, operations, membership, events, training, pictures, and links. |
| Random 2 | Urmila Satyanarayan | http://www.thehorizons.com/review/rev6.htm Urmila Satyanarayan | Top/Arts/Performing_Arts/Dance/Classical_Indian/Reviews A description of her dance recital. |
| Random 3 | Ventura Orthopaedic & Sports Medical Group | http://www.venturaorthopedic.com Ventura Orthopaedic & Sports Medical Group | Top/Health/Medicine/Surgery/Orthopedics/Surgeons_and_Clinics/United_States/California Providing orthopedic care in Ventura, Oxnard, Ojai, Simi Valley, and Thousand Oaks. |
| Random 4 | Lubov & Associates, LLC | http://www.lubovandassociates.com/ Lubov & Associates, LLC | Top/Society/Law/Services/Lawyers_and_Law_Firms/General_Practice/North_America/United_States/Minnesota Golden Valley firm offering services for personal injury, family law, medical malpractice, criminal law, civil litigation, estate administration, and mental health law. |
| Random 5 | Proestetica | http://www.proestetica.ro/ Proestetica | Top/World/Română/Sănătate/Medicină/Spitale_şi_clinici Clinică privată de chirurgie estetică, prezintă: practica medicală, clinica şi echipa. |
| Next | National Library of Medicine | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Pallister-Killian+syndrome&field=name National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Pallister_Killian_Mosaic_Syndrome The synonyms of Killian syndrome, a summary and a list of major features. |
| Next 10 | eMedicine - Noonan Syndrome : Article by Jennifer Ibrahim, MD | http://www.emedicine.com/PED/topic1616.htm eMedicine - Noonan Syndrome : Article by Jennifer Ibrahim, MD | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Noonan_Syndrome Thorough summary of history, diagnosis, and treatment. |
| Random 1 | Augusto Schiavo and Caterina Arzenton | http://ourworld.compuserve.com/homepages/schiavo/ Augusto Schiavo and Caterina Arzenton | Top/Arts/Performing_Arts/Dance/Education/Instructors Competition dancers and ballroom instructors - London, Verona, Rome. |
| Random 4 | Alternative Health Network | http://www.alternatehealth.net/ Alternative Health Network | Top/Shopping/Health/Alternative/Flower_Essences Alternative health remedies including Deva Flower essences and Red Earth Herbal drops. |
| Random 4 | An Illustrated Herbal | http://www.magdalin.com/herbal An Illustrated Herbal | Top/Health/Alternative/Herbs/Materia_Medica/Classic_Texts An illustrated herbal based mostly on Culpeper's Herbal. It contains around 500 entries of medicinal plants and their properties. Glossary of terms, preparation methods, bolean search engine. |
| Next 70 | Eyelid Disorders | http://www.healthatoz.com/healthatoz/Atoz/ency/eyelid_disorders.jsp Eyelid Disorders | Top/Health/Conditions_and_Diseases/Eye_Disorders/Eyelids Definition, description, symptoms and management of common eyelid disorders. |
| Previous 70 | From the Window of a Weaver's Syndrome | http://www.rumeysagelgi.com From the Window of a Weaver's Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Weaver_Syndrome Rumeysa Gelgi is the first and the only Weaver's Syndrome case in Turkey and 27th case over the World. Find information about her life and the disease. |
| Next 170 | Enabling Sport Foundation | http://www.railriders.net/esf/ Enabling Sport Foundation | Top/Health/Conditions_and_Diseases/Eye_Disorders/Blindness/Organizations Information about a recreational sport for the physically challenged; rail riding on abandoned railroad tracks. Based in New Hampshire. |
| Previous 170 | Nail Patella Syndrome | http://hometown.aol.com/PACALI/npspage.html Nail Patella Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/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. |
| Next 270 | |||
| Previous 270 | Cystic Fibrosis Nurses: the International Specialist Group | http://www.cfnurses.net Cystic Fibrosis Nurses: the International Specialist Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Organization whose goals include setting and promoting high standards of nursing practice in the treatment of persons with Cystic Fibrosis. |
| Other resource N0 | Canadian Cystic Fibrosis Foundation | http://www.cysticfibrosis.ca/ Canadian Cystic Fibrosis Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Support and resources. Located in Toronto, Ontario. |
| Other resource N1 | Dream Holidays Charity | http://www.cfdreamholidays.com/ Dream Holidays Charity | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations 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. |
| Other resource N2 | Reaching Out Foundation | http://www.reachingoutfoundation.org/ Reaching Out Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations 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. |
| Other resource N3 | Victoria Chapter, Canadian Cystic Fibrosis Foundation | http://www.victoriacfchapter.ca/ Victoria Chapter, Canadian Cystic Fibrosis Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations 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. |
| Other resource N4 | Concerned Friends of Cystic Fibrosis in Israel | http://www.cfcfisrael.org Concerned Friends of Cystic Fibrosis in Israel | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Charitable organization that helps families in Israel who have a member suffering from CF. Includes news, medical equipment needed, and donation information. |
| Other resource N5 | Cystic Fibrosis Australia | http://www.cysticfibrosisaustralia.org.au/ Cystic Fibrosis Australia | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Information about the organization and its aims and objectives, CF facts, events, links and contact details. |
| Other resource N6 | Cystic Fibrosis Research Inc. | http://www.cfri.org/ Cystic Fibrosis Research Inc. | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research News about CF research. Site also has a newsletter available. |
| Other resource N7 | Cystic Fibrosis: Gene to Product | http://wsrv.clas.virginia.edu/~rjh9u/cfmap.html Cystic Fibrosis: Gene to Product | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Research 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. |
| Other resource N8 | San Diego Bicarbonate Conference - HCO3 and Cystic Fibrosis | http://hco3-cysticfibrosis.ucsd.edu/index.htm San Diego Bicarbonate Conference - HCO3 and Cystic Fibrosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Conferences Conference photos, list of speakers and abstracts. |
| Other resource N9 | Iron Overload: Hemosiderosis; Hemochromatosis | http://www.merck.com/pubs/mmanual/section11/chapter128/128a.htm Iron Overload: Hemosiderosis; Hemochromatosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Merck Manual looks at this disorder, its signs and symptoms, diagnosis and treatment. |
| Other resource N10 | Iron Disorders Institute | http://www.irondisorders.org/ Iron Disorders Institute | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Non-profit National Voluntary Health Agency that provides information about disorders of iron such as hemochromatosis. |
| Other resource N11 | CDC: Iron Overload and Hemochromatosis | http://www.cdc.gov/nccdphp/dnpa/hemochromatosis/index.htm CDC: Iron Overload and Hemochromatosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis The US Centers for Disease Control and Prevention provide reviewed information on hemochromatosis, including screening, information for patients, FAQ and resources. |
| Other resource N12 | Haemochromatosis UK | http://www.has-ironoverload.co.uk Haemochromatosis UK | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Light hearted and simple terms in explaining the serious disease of haemochromatosis. |
| Other resource N13 | Irish Haemochromatosis Society | http://www.haemochromatosis-ir.com/ Irish Haemochromatosis Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Irish volunteer organisation to support people with haemochromatosis and promote the disease. |
| Other resource N14 | Iron Overload Disorder Support Forum | http://www.iodforum.net Iron Overload Disorder Support Forum | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Support group for those affected by hemochromatosis |
| Other resource N15 | Joubert Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm Joubert Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Information sheet compiled by NINDS. |
| Other resource N16 | TheFetus.net | http://www.thefetus.net/page.php?id=122 TheFetus.net | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. |
| Other resource N17 | Yahoo Health | http://health.yahoo.com/health/dc/000392/0.html Yahoo Health | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Familial_Hypercholesterolemia An overview of familial hypercholesterolemia including, symptoms, treatment and prevention. |
| Other resource N18 | Crigler-Najjar Disease | http://it.geocities.com/criglernajjar Crigler-Najjar Disease | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome Bi-lingual site with information and links on this disease. |
| Other resource N19 | Coffin-Lowry Syndrome Foundation | http://clsfoundation.tripod.com/ Coffin-Lowry Syndrome Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. |
| Other resource N20 | NORD: Coffin Lowry Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin%20Lowry%20Syndrome NORD: Coffin Lowry Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome General information about this syndrome, its alternative names and further resources. |
| Other resource N21 | Klinefelter Syndrome | http://www.emedicine.com/PED/topic1252.htm Klinefelter Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Overview and medical information. |
| Other resource N22 | Genetic Org Home | http://www.genetic.org/ Genetic Org Home | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Information about Klinefelter Syndrome, when it was first discovered, the common characteristics, and treatment. |
| Other resource N23 | XXY Information (Klinefelter Syndrome) | http://www.47xxy.org/XXYframe.html XXY Information (Klinefelter Syndrome) | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Medical information, news, and links. |
| Other resource N24 | Yahoo!: XXYList | http://groups.yahoo.com/group/xxylist Yahoo!: XXYList | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome 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. |
| Other resource N25 | BWSN: Beckwith-Wiedemann Syndrome | http://beckwith-wiedemann.org/index.html BWSN: Beckwith-Wiedemann Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/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. |
| Other resource N26 | National Library of Medicine | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome052.html National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features. |
| Other resource N27 | Beckwith-Wiedemann Family Chat Forum | http://groups.yahoo.com/group/bwschat Beckwith-Wiedemann Family Chat Forum | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome An international email discussion group promoting the exchange of Beckwith-Wiedemann Syndrome (BWS) related information and support. |
| Other resource N28 | Floating Harbor Syndrome Support Group | http://hometown.aol.com/jdswanson Floating Harbor Syndrome Support Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome Provides a description, including a list of symptoms, things to do and links to other resources. Also contact detail. |
| Other resource N29 | Readers Digest Health | http://www.rd.com/common/nav/index.jhtml?articleId=8612919 Readers Digest Health | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome A general discussion about floating harbor syndrome and some resources for further information. |
| Other resource N30 | Family Village | http://www.familyvillage.wisc.edu/lib_vonh.htm Family Village | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Von_Hippel-Lindau Links to chat rooms, web sites and information about Von Hippel Lindau's disease. |
| Other resource N31 | Nail Patella Syndrome Worldwide | http://www.nailpatella.org Nail Patella Syndrome Worldwide | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome 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. |
| Other resource N32 | John Hopkins Medical Institution - NPS | http://www.hopkinsmedicine.org/healthnewsfeed/hnf_839.htm John Hopkins Medical Institution - NPS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome Information about nail patella syndrome, what it is, a look at the gene, and links to resources and support groups. |
| Other resource N33 | Alpha One Foundation | http://www.alphaone.org Alpha One Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency. |
| Other resource N34 | University of Cambridge | http://www.cimr.cam.ac.uk/people/profiles/lomas_david_profile.html University of Cambridge | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Laboratory in Cambridge, UK, researching the cause and treatment of alpha1-antitrypsin deficiency. |
| Other resource N35 | Spiderspun | http://www.spiderspun.net Spiderspun | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency A haven for those affected by Alpha-1 Antirypsin Deficiency. Facts, chat rooms, assistance programs, and reference material. |
| Other resource N36 | Pediatric Oncall | http://www.pediatriconcall.com/fordoctor/diseasesandcondition/alpha1deficiency.asp Pediatric Oncall | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Offers a description of alpha–l antitrypsin, including the affects on the liver and how it presents. |
| Other resource N37 | Batten Disease Family Association | http://www.bdfauk.freeserve.co.uk/ Batten Disease Family Association | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten 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. |
| Other resource N38 | seeAbility - Juvenile Battens Disease | http://www.seeability.org/randd/jboverview.htm seeAbility - Juvenile Battens Disease | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten An in depth article on this disorder, includes the stages of the disease and the symptoms. |
| Other resource N39 | E-Medicine: HAE | http://www.emedicine.com/derm/topic24.htm E-Medicine: HAE | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema An in dept look at hereditary angioedema beginning with an introduction, clinical features, differentials, work up, treatment, medication and follow up. |
| Other resource N40 | Adam.com: An Overview | http://www.nlm.nih.gov/medlineplus/ency/article/001456.htm Adam.com: An Overview | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema A definition of hereditary angioedema along with a look at the causes, incidence and risk factors. |
| Other resource N41 | Ashly's Skeletal Dysplasia | http://www.angelfire.com/or2/ashlysworldofwonders/about.html Ashly's Skeletal Dysplasia | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages A mom describes her daughters disorder which is thought to be a metabolic disease similar to mucopolysachharisdoses. Also links to other related sites. |
| Other resource N42 | Taryn's World: About Switches | http://www.tarynsworld.org/taryn/switches.htm Taryn's World: About Switches | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Personal page for kids and parents about genetic disorders, especially mannosidosis. |
| Other resource N43 | XXXXY Syndrome | http://www.xxxxysyndrome.com XXXXY Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Information on this rare chromosomal abnormality. |
| Other resource N44 | Mowat-Wilson | http://www.mowatwilson.org Mowat-Wilson | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Discussion site for mowat-wilson syndrome. Includes a links page, photos, a community page and a discussion area. |
| Other resource N45 | McArdle's Disease Resources | http://members.aol.com/itsgumby/ McArdle's Disease Resources | Top/Health/Conditions_and_Diseases/Genetic_Disorders/McArdle's Information, resources, and contacts for those affected by this disease or any of the glycogen storage diseases. |
| Other resource N46 | MCW Healthlink: Mobius Syndrome | http://healthlink.mcw.edu/article/921441372.html MCW Healthlink: Mobius Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Details about this disease, including what it is, the causes, symptoms and treatment options. |
| Other resource N47 | Lowe Syndrome Association | http://www.lowesyndrome.org Lowe Syndrome Association | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndrome Information about this disease and the international organization that deals with it. |
| Other resource N48 | Fatty Oxidation Disorders | http://www.fodsupport.org/ Fatty Oxidation Disorders | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Informational site provides details on newborn screening, on numerous diseases, medical information and support resources such as a newsletter and email List. |
| Other resource N49 | Lchad.com | http://www.lchad.com Lchad.com | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Support site for families affected by Long-Chain 3 Hydroxyacyl CoA Dehydrogense (LCHAD). Includes profiles of people with LCHAD and general information about the disorder. |
| Other resource N50 | Hemihypertrophy | http://www.ibis-birthdefects.org/start/hemihype.htm Hemihypertrophy | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemihypertrophy A description from International Birth Defects Information Systems. |
| Other resource N51 | Human Genome Mapping Project | http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095 Human Genome Mapping Project | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel-Gruber_Syndrome A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. |
| Other resource N52 | NCBI Genes and Diseases | http://www.ncbi.nlm.nih.gov/disease/DGS.html NCBI Genes and Diseases | Top/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome An article about DiGeorge syndrome with a description, causes, research and treatment. |
| Other resource N53 | 22q and You Center | http://www.chop.edu/consumer/jsp/division/service.jsp?id=74652 22q and You Center | Top/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome Symptoms, diagnosis, and treatment of chromosome 22q11.2 deletion, a genetic disorder associated with DiGeorge, velocardiofacial and other syndromes. |
| Other resource N54 | Incontinentia Pigmenti | http://www.ninds.nih.gov/health_and_medical/disorders/inconpig_doc.htm Incontinentia Pigmenti | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Informational sheet compiled by National Institute of Neurological Disorders and Stroke. |
| Other resource N55 | Incontinentia Pigmenti International Foundation | http://imgen.bcm.tmc.edu/ipif/ Incontinentia Pigmenti International Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti 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. |
| Other resource N56 | Laurence Moon Bardet Biedl Society | http://www.lmbbs.org.uk Laurence Moon Bardet Biedl Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Laurence-Moon_Syndrome Fully accessible site for people with LMBB, their families, friends, carers and interested professionals. Opinions, news, views, research, updates, and contact details. |
| Other resource N57 | Urea Cycle Disorders | http://www.2endure.com Urea Cycle Disorders | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Urea_Cycle Information, medical links and a message board. The true story of a one family's struggle with this illness. |
| Other resource N58 | Hereditary Spastic Paraplegia | http://www.ninds.nih.gov/health_and_medical/disorders/hereditarysp.htm Hereditary Spastic Paraplegia | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke. |
| Other resource N59 | MCW Healthlink: HSP | http://healthlink.mcw.edu/article/921730935.html MCW Healthlink: HSP | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia An article about hereditary spastic paraplegia, also called familial spastic paralysis. |
| Other resource N60 | Soto's Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/sotos.htm Soto's Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome Also known as cerebral gigantism, an information sheet compiled by NINDS. |
| Other resource N61 | Sotos Syndrome Support Association of Canada | http://www.sssac.com Sotos Syndrome Support Association of Canada | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome Provides educational and emotional support, and current information. English and French. |
| Other resource N62 | Zellweger Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/zellwege_doc.htm Zellweger Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome Information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke. |
| Other resource N63 | NORD: Zellweger Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Zellweger%20Syndrome NORD: Zellweger Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome Offers alternate names, a general discussion and resources. |
| Other resource N64 | From the Window of a Weaver's Syndrome | http://www.rumeysagelgi.com From the Window of a Weaver's Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Weaver_Syndrome Rumeysa Gelgi is the first and the only Weaver's Syndrome case in Turkey and 27th case over the World. Find information about her life and the disease. |
| Other resource N65 | The CaF Directory | http://www.cafamily.org.uk/Direct/e14.html The CaF Directory | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Information about the ectodermal dysplasia disorders, the inheritance patterns and pre-natal diagnosing. |
| Other resource N66 | The Ectodermal Dysplasia Mailing List | http://hometown.aol.com/charliein/ed/home.html The Ectodermal Dysplasia Mailing List | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Includes instructions on joining the list, FAQs and links to further resources. |
| Other resource N67 | PXE International | http://pxe.org PXE International | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Pseudoxanthoma_Elasticum The comprehensive source for pseudoxanthoma elasticum research and world wide activities. |
| Other resource N68 | International Joseph Disease Foundation | http://www.ijdf.net International Joseph Disease Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Joseph Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease. |
| Other resource N69 | Machado Joseph Disease | http://www.mazornet.com/genetics/machado.asp Machado Joseph Disease | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Joseph Origins of the disease and the Jewish connection. Symptoms, diagnosis, ongoing research information, and resources. |
| Other resource N70 | Costello Kids | http://www.costellokids.co.uk/ Costello Kids | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Costello_Syndrome Official site of the International Costello Syndrome Support Group. Includes medical information, photographs and videos, therapy ideas, news, and links. |
| Other resource N71 | Health Library - Dubowitz Syndrome | http://www.laurushealth.com/library/healthguide/IllnessConditions/_showTopic.asp?topic_id=10516&pd_id=12016&sgml_id=nord198 Health Library - Dubowitz Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Dubowitz_Syndrome The synonyms of this disorder with a general discussion and further resources. |
| Other resource N72 | Yahoo! Groups: VCFS Family Support | http://groups.yahoo.com/group/vcfsfamilysupport/ Yahoo! Groups: VCFS Family Support | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-Cardio-Facial_Syndrome Join, post and read mail for this group which concerns DiGeorge Syndrome and Velo-Cardio-Facial Syndrome. |
| Other resource N73 | Usher Syndrome | http://www.rpsa.org.za/a6.htm Usher Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Usher_Syndrome A description of this disease from Retinal Preservation Foundation of South Africa. |
| Other resource N74 | National Library of Medicine: OS | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome498.html National Library of Medicine: OS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome Opitz syndrome, the synonyms, a summary and a list of major features. |
| Other resource N75 | The Opitz G/BBB Family Network | http://www.opitznet.org The Opitz G/BBB Family Network | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome Online support and information for families with Opitz G/BBB Syndrome. Provides families with easy-to-read information about the syndrome. |
| Other resource N76 | TAR Syndrome Support Group | http://www.ivh.se/TAR/contents.htm TAR Syndrome Support Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Thrombocytopenia_Absent_Radius_Syndrome For families of children born with this rare disorder. |
| Other resource N77 | NORD: Sturge Weber Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sturge%20Weber%20Syndrome NORD: Sturge Weber Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Sturge-Weber_Syndrome Offers a list of synonyms, a general discussion and further resources. |
| Other resource N78 | Prune Belly Syndrome Network | http://www.prunebelly.org/ Prune Belly Syndrome Network | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Prune_Belly_Syndrome 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. |
| Other resource N79 | National Library of Medicine | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome562.html National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Robinow_Syndrome The synonyms of Robinow syndrome, a summary and a list of major features. |
| Other resource N80 | The CaF Directory | http://www.cafamily.org.uk/Direct/s30.html The CaF Directory | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Russell_Silver_Syndrome A definition of Silver Russell syndrome, its inheritance patterns, and pre-natal diagnosing. Also lists a support group in the United Kingdom. |