Noonan Syndrome

site URL - http://www.heather.flyer.co.uk/noonan.htm

Site description: Story of 6-year-old Becky, with factsheet and resources.




Topic: Top/Health/Conditions_and_Diseases/Genetic_Disorders/Noonan_Syndrome

LINKURI & TITLEDESCRIPTION & TOPIC
Previous 10NORD: Popliteal Pterygium Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Popliteal%20Pterygium%20Syndrome%20 NORD: Popliteal Pterygium SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Popliteal_Pterygium_Syndrome Offers synonyms, a general discussion and further resources.
PreviousThe CaF Directoryhttp://www.cafamily.org.uk/Direct/n33.html The CaF DirectoryTop/Health/Conditions_and_Diseases/Genetic_Disorders/Noonan_Syndrome A description of Noonan syndrome, its inheritance patterns and pre-natal diagnosing.
Random 1Hearing Better: Understanding Your Optionshttp://www.upublish.com/books/burkey.htm Hearing Better: Understanding Your OptionsTop/Shopping/Publications/Books/Health/Conditions_and_Diseases/Specific_Titles A 'plain English' book for persons with a known or suspected hearing loss.
Random 2Medistathttp://www.medistatonline.com/ MedistatTop/Business/Healthcare/Products_and_Services/Medical_Equipment/Catalogues Offers medical supplies, first aid kits, and sterile instruments.
Random 3Obesity-diet.comhttp://www2.obesity-diet.com/index.php?ids=zThaaLucARkeCDRPRjzo&ide=2 Obesity-diet.comTop/Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disorders/Obesity European-based, professional web site dealing with diet and obesity. It is meant for the general public.
Random 4Tentanus.orghttp://www.tetanus.org Tentanus.orgTop/Health/Conditions_and_Diseases/Infectious_Diseases/Bacterial/Clostridial/Tetanus Offers facts about tetanus, and diptheria and their prevention.
Random 5Anna Catherine's Clubfoot Websitehttp://members.aol.com/vc11/index.htm?mtbrand=AOL_US Anna Catherine's Clubfoot WebsiteTop/Health/Conditions_and_Diseases/Musculoskeletal_Disorders/Congenital_Anomalies/Clubfoot/Personal_Pages Personal account with information photo story.
NextNoonan Syndrome - by Michelle Ellishttp://www.guch.demon.co.uk/pe0010.htm Noonan Syndrome - by Michelle EllisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Noonan_Syndrome Account of her life with the disorder.
Next 10Australian MPS & Related Diseases Societyhttp://www.mpssociety.org.au Australian MPS & Related Diseases SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Organizations 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.
Random 1Academy of Performing Arts Macarthurhttp://www.apamacarthur.com.au Academy of Performing Arts MacarthurTop/Arts/Performing_Arts/Dance/Education/Studios/Australia Lesson in ballet, jazz, tap, and modern dance in perfroming arts academy based at Narellan, in the Macarthur region of Sydney, Australia.
Random 4Jennie Company, Thehttp://www.jenniecompany.com/ Jennie Company, TheTop/Business/Healthcare/Products_and_Services/Disability/Seating_and_Positioning_Aids Designs and builds mobility equipment, tables, standing and positioning aids for those with disabilities.
Random 4The Voicehttp://www.visualprosthesis.com/voice.htm The VoiceTop/Health/Conditions_and_Diseases/Eye_Disorders/Blindness Translates images from a camera into sounds that one hears via stereo headphones and targetting vision substitution for the totally blind.
Next 70Eye Floatershttp://interservicesnetwork.tripod.com/floaters/ Eye FloatersTop/Health/Conditions_and_Diseases/Eye_Disorders/Floaters Advancement of knowledge and information on finding a cure.
Previous 70International Joseph Disease Foundationhttp://www.ijdf.net International Joseph Disease FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Joseph Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease.
Next 170National Federation of the Blindhttp://www.nfb.org/ National Federation of the BlindTop/Health/Conditions_and_Diseases/Eye_Disorders/Blindness/Organizations Resources for the blind: Services, technology news, visual aids and research information.
Previous 170Late Manifestation of Alpha-1-antitrypsin Deficiency in the Adulthttp://www.ikp.unibe.ch/lab2/A1AT.html Late Manifestation of Alpha-1-antitrypsin Deficiency in the AdultTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Literature review of late manifestations including hepatic decompensation and hepatocellular cancer in alpha-1-antitrypsin deficiency.
Next 270
Previous 270Lungs for Life Foundationhttp://Lungsforlife.org/ Lungs for Life FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Organizations Provides financial assistance to cystic fibrosis and lung transplant patients.
Other resource N0 Concerned Friends of Cystic Fibrosis in Israelhttp://www.cfcfisrael.org Concerned Friends of Cystic Fibrosis in IsraelTop/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 N1 Cystic Fibrosis Australiahttp://www.cysticfibrosisaustralia.org.au/ Cystic Fibrosis AustraliaTop/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 N2 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 N3 Cystic Fibrosis: Gene to Producthttp://wsrv.clas.virginia.edu/~rjh9u/cfmap.html Cystic Fibrosis: Gene to ProductTop/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 N4 San Diego Bicarbonate Conference - HCO3 and Cystic Fibrosishttp://hco3-cysticfibrosis.ucsd.edu/index.htm San Diego Bicarbonate Conference - HCO3 and Cystic FibrosisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Conferences Conference photos, list of speakers and abstracts.
Other resource N5 Iron Overload: Hemosiderosis; Hemochromatosishttp://www.merck.com/pubs/mmanual/section11/chapter128/128a.htm Iron Overload: Hemosiderosis; HemochromatosisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Merck Manual looks at this disorder, its signs and symptoms, diagnosis and treatment.
Other resource N6 Iron Disorders Institutehttp://www.irondisorders.org/ Iron Disorders InstituteTop/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 N7 CDC: Iron Overload and Hemochromatosishttp://www.cdc.gov/nccdphp/dnpa/hemochromatosis/index.htm CDC: Iron Overload and HemochromatosisTop/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 N8 Haemochromatosis UKhttp://www.has-ironoverload.co.uk Haemochromatosis UKTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Light hearted and simple terms in explaining the serious disease of haemochromatosis.
Other resource N9 Irish Haemochromatosis Societyhttp://www.haemochromatosis-ir.com/ Irish Haemochromatosis SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Irish volunteer organisation to support people with haemochromatosis and promote the disease.
Other resource N10 Iron Overload Disorder Support Forumhttp://www.iodforum.net Iron Overload Disorder Support ForumTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Support group for those affected by hemochromatosis
Other resource N11 Joubert Syndromehttp://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm Joubert SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Information sheet compiled by NINDS.
Other resource N12 TheFetus.nethttp://www.thefetus.net/page.php?id=122 TheFetus.netTop/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 N13 Yahoo Healthhttp://health.yahoo.com/health/dc/000392/0.html Yahoo HealthTop/Health/Conditions_and_Diseases/Genetic_Disorders/Familial_Hypercholesterolemia An overview of familial hypercholesterolemia including, symptoms, treatment and prevention.
Other resource N14 Crigler-Najjar Diseasehttp://it.geocities.com/criglernajjar Crigler-Najjar DiseaseTop/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome Bi-lingual site with information and links on this disease.
Other resource N15 Coffin-Lowry Syndrome Foundationhttp://clsfoundation.tripod.com/ Coffin-Lowry Syndrome FoundationTop/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 N16 NORD: Coffin Lowry Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin%20Lowry%20Syndrome NORD: Coffin Lowry SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome General information about this syndrome, its alternative names and further resources.
Other resource N17 Klinefelter Syndromehttp://www.emedicine.com/PED/topic1252.htm Klinefelter SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Overview and medical information.
Other resource N18 Genetic Org Homehttp://www.genetic.org/ Genetic Org HomeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Information about Klinefelter Syndrome, when it was first discovered, the common characteristics, and treatment.
Other resource N19 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 N20 Yahoo!: XXYListhttp://groups.yahoo.com/group/xxylist Yahoo!: XXYListTop/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 N21 BWSN: Beckwith-Wiedemann Syndromehttp://beckwith-wiedemann.org/index.html BWSN: Beckwith-Wiedemann SyndromeTop/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 N22 National Library of Medicinehttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome052.html National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features.
Other resource N23 Beckwith-Wiedemann Family Chat Forumhttp://groups.yahoo.com/group/bwschat Beckwith-Wiedemann Family Chat ForumTop/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 N24 Floating Harbor Syndrome Support Grouphttp://hometown.aol.com/jdswanson Floating Harbor Syndrome Support GroupTop/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 N25 Readers Digest Healthhttp://www.rd.com/common/nav/index.jhtml?articleId=8612919 Readers Digest HealthTop/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome A general discussion about floating harbor syndrome and some resources for further information.
Other resource N26 Family Villagehttp://www.familyvillage.wisc.edu/lib_vonh.htm Family VillageTop/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 N27 Nail Patella Syndrome Worldwidehttp://www.nailpatella.org Nail Patella Syndrome WorldwideTop/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 N28 John Hopkins Medical Institution - NPShttp://www.hopkinsmedicine.org/healthnewsfeed/hnf_839.htm John Hopkins Medical Institution - NPSTop/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 N29 Alpha One Foundationhttp://www.alphaone.org Alpha One FoundationTop/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 N30 University of Cambridgehttp://www.cimr.cam.ac.uk/people/profiles/lomas_david_profile.html University of CambridgeTop/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 N31 Spiderspunhttp://www.spiderspun.net SpiderspunTop/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 N32 Pediatric Oncallhttp://www.pediatriconcall.com/fordoctor/diseasesandcondition/alpha1deficiency.asp Pediatric OncallTop/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 N33 Batten Disease Family Associationhttp://www.bdfauk.freeserve.co.uk/ Batten Disease Family AssociationTop/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 N34 seeAbility - Juvenile Battens Diseasehttp://www.seeability.org/randd/jboverview.htm seeAbility - Juvenile Battens DiseaseTop/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 N35 E-Medicine: HAEhttp://www.emedicine.com/derm/topic24.htm E-Medicine: HAETop/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 N36 Adam.com: An Overviewhttp://www.nlm.nih.gov/medlineplus/ency/article/001456.htm Adam.com: An OverviewTop/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 N37 Ashly's Skeletal Dysplasiahttp://www.angelfire.com/or2/ashlysworldofwonders/about.html Ashly's Skeletal DysplasiaTop/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 N38 Taryn's World: About Switcheshttp://www.tarynsworld.org/taryn/switches.htm Taryn's World: About SwitchesTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Personal page for kids and parents about genetic disorders, especially mannosidosis.
Other resource N39 XXXXY Syndromehttp://www.xxxxysyndrome.com XXXXY SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Information on this rare chromosomal abnormality.
Other resource N40 Mowat-Wilsonhttp://www.mowatwilson.org Mowat-WilsonTop/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 N41 McArdle's Disease Resourceshttp://members.aol.com/itsgumby/ McArdle's Disease ResourcesTop/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 N42 MCW Healthlink: Mobius Syndromehttp://healthlink.mcw.edu/article/921441372.html MCW Healthlink: Mobius SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Details about this disease, including what it is, the causes, symptoms and treatment options.
Other resource N43 Lowe Syndrome Associationhttp://www.lowesyndrome.org Lowe Syndrome AssociationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndrome Information about this disease and the international organization that deals with it.
Other resource N44 Fatty Oxidation Disordershttp://www.fodsupport.org/ Fatty Oxidation DisordersTop/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 N45 Lchad.comhttp://www.lchad.com Lchad.comTop/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 N46 Hemihypertrophyhttp://www.ibis-birthdefects.org/start/hemihype.htm HemihypertrophyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemihypertrophy A description from International Birth Defects Information Systems.
Other resource N47 Human Genome Mapping Projecthttp://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095 Human Genome Mapping ProjectTop/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel-Gruber_Syndrome A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica.
Other resource N48 NCBI Genes and Diseaseshttp://www.ncbi.nlm.nih.gov/disease/DGS.html NCBI Genes and DiseasesTop/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome An article about DiGeorge syndrome with a description, causes, research and treatment.
Other resource N49 22q and You Centerhttp://www.chop.edu/consumer/jsp/division/service.jsp?id=74652 22q and You CenterTop/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 N50 Incontinentia Pigmentihttp://www.ninds.nih.gov/health_and_medical/disorders/inconpig_doc.htm Incontinentia PigmentiTop/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Informational sheet compiled by National Institute of Neurological Disorders and Stroke.
Other resource N51 Incontinentia Pigmenti International Foundationhttp://imgen.bcm.tmc.edu/ipif/ Incontinentia Pigmenti International FoundationTop/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 N52 Laurence Moon Bardet Biedl Societyhttp://www.lmbbs.org.uk Laurence Moon Bardet Biedl SocietyTop/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 N53 Urea Cycle Disordershttp://www.2endure.com Urea Cycle DisordersTop/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 N54 Hereditary Spastic Paraplegiahttp://www.ninds.nih.gov/health_and_medical/disorders/hereditarysp.htm Hereditary Spastic ParaplegiaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Other resource N55 MCW Healthlink: HSPhttp://healthlink.mcw.edu/article/921730935.html MCW Healthlink: HSPTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia An article about hereditary spastic paraplegia, also called familial spastic paralysis.
Other resource N56 Soto's Syndromehttp://www.ninds.nih.gov/health_and_medical/disorders/sotos.htm Soto's SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome Also known as cerebral gigantism, an information sheet compiled by NINDS.
Other resource N57 Sotos Syndrome Support Association of Canadahttp://www.sssac.com Sotos Syndrome Support Association of CanadaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome Provides educational and emotional support, and current information. English and French.
Other resource N58 Zellweger Syndromehttp://www.ninds.nih.gov/health_and_medical/disorders/zellwege_doc.htm Zellweger SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome Information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Other resource N59 NORD: Zellweger Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Zellweger%20Syndrome NORD: Zellweger SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome Offers alternate names, a general discussion and resources.
Other resource N60 From the Window of a Weaver's Syndromehttp://www.rumeysagelgi.com From the Window of a Weaver's SyndromeTop/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 N61 The CaF Directoryhttp://www.cafamily.org.uk/Direct/e14.html The CaF DirectoryTop/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Information about the ectodermal dysplasia disorders, the inheritance patterns and pre-natal diagnosing.
Other resource N62 The Ectodermal Dysplasia Mailing Listhttp://hometown.aol.com/charliein/ed/home.html The Ectodermal Dysplasia Mailing ListTop/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Includes instructions on joining the list, FAQs and links to further resources.
Other resource N63 PXE Internationalhttp://pxe.org PXE InternationalTop/Health/Conditions_and_Diseases/Genetic_Disorders/Pseudoxanthoma_Elasticum The comprehensive source for pseudoxanthoma elasticum research and world wide activities.
Other resource N64 International Joseph Disease Foundationhttp://www.ijdf.net International Joseph Disease FoundationTop/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 N65 Machado Joseph Diseasehttp://www.mazornet.com/genetics/machado.asp Machado Joseph DiseaseTop/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 N66 Costello Kidshttp://www.costellokids.co.uk/ Costello KidsTop/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 N67 Health Library - Dubowitz Syndromehttp://www.laurushealth.com/library/healthguide/IllnessConditions/_showTopic.asp?topic_id=10516&pd_id=12016&sgml_id=nord198 Health Library - Dubowitz SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Dubowitz_Syndrome The synonyms of this disorder with a general discussion and further resources.
Other resource N68 Yahoo! Groups: VCFS Family Supporthttp://groups.yahoo.com/group/vcfsfamilysupport/ Yahoo! Groups: VCFS Family SupportTop/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 N69 Usher Syndromehttp://www.rpsa.org.za/a6.htm Usher SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Usher_Syndrome A description of this disease from Retinal Preservation Foundation of South Africa.
Other resource N70 National Library of Medicine: OShttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome498.html National Library of Medicine: OSTop/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome Opitz syndrome, the synonyms, a summary and a list of major features.
Other resource N71 The Opitz G/BBB Family Networkhttp://www.opitznet.org The Opitz G/BBB Family NetworkTop/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 N72 TAR Syndrome Support Grouphttp://www.ivh.se/TAR/contents.htm TAR Syndrome Support GroupTop/Health/Conditions_and_Diseases/Genetic_Disorders/Thrombocytopenia_Absent_Radius_Syndrome For families of children born with this rare disorder.
Other resource N73 NORD: Sturge Weber Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sturge%20Weber%20Syndrome NORD: Sturge Weber SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Sturge-Weber_Syndrome Offers a list of synonyms, a general discussion and further resources.
Other resource N74 Prune Belly Syndrome Networkhttp://www.prunebelly.org/ Prune Belly Syndrome NetworkTop/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 N75 National Library of Medicinehttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome562.html National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Robinow_Syndrome The synonyms of Robinow syndrome, a summary and a list of major features.
Other resource N76 The CaF Directoryhttp://www.cafamily.org.uk/Direct/s30.html The CaF DirectoryTop/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.
Other resource N77 Cleveland Clinichttp://www.clevelandclinic.org/health/health-info/docs/1300/1338.asp Cleveland ClinicTop/Health/Conditions_and_Diseases/Genetic_Disorders/Schizencephaly A description of schizencephaly including treatments and prognosis and further reading.
Other resource N78 Emergency Medicinehttp://www.emedicine.com/ped/topic2117.htm Emergency MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Smith_Lemli_Opitz_Syndrome An extensive article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis.
Other resource N79 NORD: Smith Magenis Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith%20Lemli%20Opitz%20Syndrome NORD: Smith Magenis SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Smith-Magenis_Syndrome Offers the synonyms, a general discussion and further resources.
Other resource N80 Shwachman Syndromehttp://www.chariot.net.au/~dna/angelica.html Shwachman SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Shwachman_Syndrome A mothers story to diagnose this disorder before a team of doctors could.

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