American Society of Genetic Disorders

site URL - http://www.ashg.org/genetics/ashg/ashgmenu.htm

Site description: Informs health professionals, legislators, health policy makers, and the general public about all aspects of human genetics.




Topic: Top/Health/Conditions_and_Diseases/Genetic_Disorders/Organizations

LINKURI & TITLEDESCRIPTION & TOPIC
Previous 10Noonan 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.
PreviousAustralian 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 1Kettering College of Medical Artshttp://www.kcma.edu/ Kettering College of Medical ArtsTop/Society/Religion_and_Spirituality/Christianity/Denominations/Seventh-day_Adventists/Education/Colleges_and_Universities Located next to Kettering Memorial Hospital,Dayton, OH. Fully-accredited college offering Associate of Science degrees in Nursing and Allied Health professions, as well as a Bachelor of Science (four year) degree in Health Professions. (U.S.A.).
Random 2Splashdown Water Birth Services Ltdhttp://www.waterbirth.co.uk Splashdown Water Birth Services LtdTop/Business/Healthcare/Products_and_Services/Suppliers Supplies water birth pools and equipment for home or hospital birth. Harrow on the Hill, Middlesex, United Kingdom.
Random 3New Treatment Optionshttp://healthlink.mcw.edu/article/955663039.html New Treatment OptionsTop/Health/Conditions_and_Diseases/Eye_Disorders/Retina/Macular_Degeneration New treatments for the wet form of Age-related Macular Degeneration include limited retinal translocation and laser treatment called photodynamic therapy.
Random 4Azienda sanitaria locale Città di Milanohttp://www.asl.milano.it/default.asp Azienda sanitaria locale Città di MilanoTop/World/Italiano/Salute/Medicina/Ricovero_e_Cura/Aziende_Sanitarie_Locali [Milano] Presenta la carta dei servizi, i diritti e doveri del malato, i dipartimenti per la prevenzione e la medicina di base. Le iniziative, la guardia medica e gli interventi per l'emergenza. Informazioni e ricerche online.
Random 5Park Avenue Dance Companyhttp://www.parkavenuedancecompany.org/ Park Avenue Dance CompanyTop/Arts/Performing_Arts/Dance/Modern/Companies/United_States/Eastern Encourages and develops modern dance choreography through participation, education, performance and community involvement in a positive environment (Rochester, NY)
NextThe Ryan Foundationhttp://www.ryanfoundation.org The Ryan FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Organizations A non-profit, all-volunteer organization dedicated to supporting research for, and the families of, those suffering from Mucopolysaccharidosis, or MPS. Find disease info, articles and links.
Next 10Propionic Acidemia Foundationhttp://pafoundation.com Propionic Acidemia FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Propionic_Acidemia The PAF is an organization that funds academic and medical research leading to better treatments and a cure of propionic acidemia, an inborn error of metabolism.
Random 1Animation Cafehttp://groups.msn.com/animationcafe/ Animation CafeTop/Arts/Animation/Chats_and_Forums A place to talk about classical animation, 3D animation, stop motion, life drawing, layout and storyboarding in terms of problems, critique or suggestions.
Random 4Butler Hospitalhttp://www.butler.org/ Butler HospitalTop/Regional/North_America/United_States/Rhode_Island/Localities/P/Providence/Health Mental health hospital, part of the Brown University School of Medicine and the Care New England Health System.
Random 4Stellar Chiropractic Solutionshttp://www.stellarchiro.com Stellar Chiropractic SolutionsTop/Business/Healthcare/Computing/Software/Practice_Management/Specialty-Specific Offers practice management software to the Chiropractic profession. Includes feature listings and pricing.
Next 70BiOptic Driving Networkhttp://www.BiOpticDriving.org BiOptic Driving NetworkTop/Health/Conditions_and_Diseases/Eye_Disorders/Low_Vision Information about driving with bioptics. List of vendors, success stories and training details.
Previous 70NORD - Velocardiofacial Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofacial%20Syndrome NORD - Velocardiofacial SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-Cardio-Facial_Syndrome A list of the synonyms, a general discussion and further resources.
Next 170The SCORE Alumni Associtationhttp://www.scorealumni.ca The SCORE Alumni AssocitationTop/Health/Conditions_and_Diseases/Eye_Disorders/Blindness/Organizations An alumni oraganization for blind and visually impaired teens that attended the SCORE camp.
Previous 170E-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.
Next 270
Previous 270Cystic Fibrosis News - Topix.nethttp://www.topix.net/health/cystic-fibrosis Cystic Fibrosis News - Topix.netTop/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/News_and_Media News on cystic fibrosis collected from diverse sources on the web.
Other resource N0 Hemochromatosis Education and Researchhttp://www.uwgi.org/hemochromatosis Hemochromatosis Education and ResearchTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Provides education, information and resources for health care providers, patients, and relatives of people with hereditary hemochromatosis.
Other resource N1 Iron Overload, Public Health and Geneticshttp://www.acponline.org/journals/annals/01dec98/supptoc.htm Iron Overload, Public Health and GeneticsTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis A supplement to the Annals of Internal Medicine with articles about hemochromatosis.
Other resource N2 Canadian Hemochromatosis Societyhttp://www.cdnhemochromatosis.ca/ Canadian Hemochromatosis SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Information about the symptoms, diagnosis and treatment of hemochromatosis.
Other resource N3 Omim: Hemochromatosishttp://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?235200 Omim: HemochromatosisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Detailed up-to-date scientific information on hemochromatosis.
Other resource N4 Haemochromatosis Society UKhttp://www.ghsoc.org/ Haemochromatosis Society UKTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Voluntary organisation for patients in England, Wales, Scotland and Northern Ireland.
Other resource N5 Hemochromatosis Information Societyhttp://www.hemoinfo.org Hemochromatosis Information SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Offers information about the symptoms and treatment of hereditary hemochromatosis.
Other resource N6 IPH-Nethttp://iphnet.tripod.com IPH-NetTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Resources and information about Idiopathic Pulmonary Hemosiderosis, a very rare lung disorder affecting children and adults.
Other resource N7 National Library of Medicine: Joubert syndromehttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome375.html National Library of Medicine: Joubert syndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Synonyms, a summary and a list of major features for this disorder.
Other resource N8 The Genetics of Joubert Syndrome and Related Disordershttp://www.ccm.ucsd.edu/jsrd.htm The Genetics of Joubert Syndrome and Related DisordersTop/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Information is presented for both physicians and families with affected children, including disease description, treatment options, prognosis, and current research.
Other resource N9 MedicineNethttp://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=3382 MedicineNetTop/Health/Conditions_and_Diseases/Genetic_Disorders/Familial_Hypercholesterolemia A brief article about familial hypercholesterolemia.
Other resource N10 NORD: Crigler Najjar Syndrome Type Ihttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Crigler%20Najjar%20Syndrome%20Type%20I NORD: Crigler Najjar Syndrome Type ITop/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome General information and further resources.
Other resource N11 NINDS: Coffin Lowry Syndromehttp://www.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm NINDS: Coffin Lowry SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Other resource N12 Klinefelter Syndrome Supporthttp://klinefeltersyndrome.org Klinefelter Syndrome SupportTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Educational and support information about Klinefelter Syndrome/XXY and its variants.
Other resource N13 Klinefelter's Syndrome gynecomastiahttp://www.plasticsurgery4u.com/procedure_folder/male_breast4.html Klinefelter's Syndrome gynecomastiaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome 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.
Other resource N14 American Association for Klinefelter Syndrome Information and Support (AAKSIS)http://www.AAKSIS.org/ American Association for Klinefelter Syndrome Information and Support (AAKSIS)Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Email list, conference, membership, newsletter, regional groups and resource links.
Other resource N15 My Klinefelter's Syndrome Pagehttp://www.geocities.com/WestHollywood/Castro/4998/klinefel.html My Klinefelter's Syndrome PageTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome David Brager's story, with information about Klinefelter's.
Other resource N16 Klinefelter Syndrome - The Ohio Support Networkhttp://www.klinefelter-ohio.com Klinefelter Syndrome - The Ohio Support NetworkTop/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Specific health and educational resources for Ohio KS individuals and their families. Links to local and national healthcare, ongoing research, conferences, and support meetings.
Other resource N17 The CaF Directoryhttp://www.cafamily.org.uk/Direct/b12.html The CaF DirectoryTop/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome A description of beckwith-wiedemann syndrome, features, and possible complications. Also information about a support group.
Other resource N18 Adam.com: An Overviewhttp://www.nlm.nih.gov/medlineplus/ency/article/001186.htm Adam.com: An OverviewTop/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors.
Other resource N19 Beckwith-Wiedemann Support Grouphttp://www.ukindex.info/bwsg Beckwith-Wiedemann Support GroupTop/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith-Wiedemann_Syndrome UK based support group. Offers a database of information and puts parents in contact with others in their locality.
Other resource N20 National Library of Medicine: FHShttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome300.html National Library of Medicine: FHSTop/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome Floating-harbor syndrome, the synonyms, a summary and a list of major features.
Other resource N21 Von Hippel-Lindau Family Alliancehttp://www.vhl.org/ Von Hippel-Lindau Family AllianceTop/Health/Conditions_and_Diseases/Genetic_Disorders/Von_Hippel-Lindau Information about the organization and the disease. Includes FAQs, newsletter, handbook, meeting schedules and support group data.
Other resource N22 Von Hippel-Lindau Diseasehttp://www.ninds.nih.gov/health_and_medical/disorders/vonhippe_doc.htm Von Hippel-Lindau DiseaseTop/Health/Conditions_and_Diseases/Genetic_Disorders/Von_Hippel-Lindau Information sheet on this disease compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Other resource N23 Medstudentshttp://www.medstudents.com.br/raredi/raredi3.htm MedstudentsTop/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome A review about nail-patella syndrome, including the genetics, incidence, pathophysiology, signs and symptoms, and prognosis.
Other resource N24 U-M Kellogg Eye Centerhttp://www.kellogg.umich.edu/patientcare/conditions/nail-patella.html U-M Kellogg Eye CenterTop/Health/Conditions_and_Diseases/Genetic_Disorders/Nail_Patella_Syndrome Nail-patella syndrome: definition and treatment information, including surgery. A discussion about the strong evidence of a link between glaucoma and NPS.
Other resource N25 Alpha 1 Awareness Alliancehttp://www.kama.u-net.com Alpha 1 Awareness AllianceTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency. Includes news, reports and links.
Other resource N26 Patient UKhttp://www.patient.co.uk/showdoc.asp?doc=90 Patient UKTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency A list of resources and support for persons living in the UK who are interested in Alpha-1 Antitrypsin Deficiency.
Other resource N27 Alpha-1 Communityhttp://windless.f2o.org Alpha-1 CommunityTop/Health/Conditions_and_Diseases/Genetic_Disorders/Alpha-1_Antitrypsin_Deficiency Memebers can submit news, events, photos or any information relating to Alpha-1 Antitrypsin Deficiency.
Other resource N28 The Natey Foundationhttp://www.nateyfoundation.org/ The Natey FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Information for parents and families of Battens victims.
Other resource N29 Nathan's Battlehttp://www.nathansbattle.com Nathan's BattleTop/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Details a boy's fight against Batten's Disease and dedication to promote awareness to help find a cure.
Other resource N30 The Luke and Rachel Batten Foundationhttp://lrbf.org The Luke and Rachel Batten FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Created to engage in education and medical research toward diagnosis, treatment and/or cure of Juvenile neuronal ceroid lipofuscinosis (Batten disease) and to assist persons with the disease.
Other resource N31 MedicineNet.com - Medical Dictionaryhttp://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=3721 MedicineNet.com - Medical DictionaryTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema A brief article about hereditary angioedema.
Other resource N32 C-1 Esterase Deficiencyhttp://www.emedicine.com/med/topic420.htm C-1 Esterase DeficiencyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema Article from eMedicine.com by Michael Elnicki MD on C-1 Esterase Deficiency also known as Hereditary angioedema (HAE).
Other resource N33 Treacher Collins Syndrome - A Personal Viewhttp://www.treachercollins.co.uk Treacher Collins Syndrome - A Personal ViewTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages UK based website, containing information about the disorder, with helpful links and discussion forum.
Other resource N34 Robert Kenneth Picklesimerhttp://www.picklesimers.com/robert_kenneth.html Robert Kenneth PicklesimerTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages Born with Jeune Syndrome or Asphyxiating Thoracic Dystrophy in Louisville Kentucky. He underwent corrective surgery in San Antonio Texas, called the Titanium Rib Project.
Other resource N35 Story of Robert Purkishttp://swpurkis.pwp.blueyonder.co.uk/index.html Story of Robert PurkisTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages A small boy's health problems, possibly Leigh's Syndrome, and how his parents have helped him improve his quality of life.
Other resource N36 Unlucky Mutanthttp://unluckymutant.no.sapo.pt Unlucky MutantTop/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages The author request help from geneticists, neuroscientists, pharmaceuticals or biotech companies.
Other resource N37 Moebius Syndrome Foundationhttp://www.ciaccess.com/moebius/ Moebius Syndrome FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Bringing together information from and links to medical and lay support for those affected by Moebius syndrome.
Other resource N38 About.com with Laura L. Jelliffe, Ph.D.http://genetics.about.com/science/genetics/library/blmob.htm About.com with Laura L. Jelliffe, Ph.D.Top/Health/Conditions_and_Diseases/Genetic_Disorders/Mobius_Syndrome Symptoms, diagnosis, and treatment of mobius syndrome. Information on research, community outreach and support.
Other resource N39 National Library of Medicine: LShttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome401.html National Library of Medicine: LSTop/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndrome Lowe syndrome, the synonyms, a summary and list of major features.
Other resource N40 THCME Medical Biochemistry Page: Fatty Acid Oxidationhttp://web.indstate.edu/thcme/mwking/fatty-acid-oxidation.html THCME Medical Biochemistry Page: Fatty Acid OxidationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_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.
Other resource N41 Adam's LCHAD Pagehttp://www.adamslchad.com Adam's LCHAD PageTop/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Oxidation Online journal detailing the life of a boy with LCHAD which is a Fatty Acid Oxidation Disorder. Includes general information details about research studies.
Other resource N42 Hemihypertrophyhttp://www.geocities.com/HotSprings/Spa/6112 HemihypertrophyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hemihypertrophy For patient and family, support and information regarding this disease. Related links and mailing list.
Other resource N43 NORD: Meckel Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Meckel%20Syndrome NORD: Meckel SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel-Gruber_Syndrome A general discussion and alternate names along with further resources.
Other resource N44 Dr. Greene's HouseCallshttp://www.drgreene.com/body.cfm?id=21&action=detail&ref=599 Dr. Greene's HouseCallsTop/Health/Conditions_and_Diseases/Genetic_Disorders/DiGeorge_Syndrome The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome.
Other resource N45 National Library of Medicinehttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome067.html National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Bloch-sulzberger syndrome, the synonyms, a summary and major features.
Other resource N46 Vanderbilt Medical Centerhttp://www.mc.vanderbilt.edu/peds/pidl/nutrit/incont.htm Vanderbilt Medical CenterTop/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti An article about incotinentia pigmenti.
Other resource N47 Incontinentia Pigmenti: All About Annahttp://mom_2_three_ip.tripod.com/ Incontinentia Pigmenti: All About AnnaTop/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti The authors' daughter was diagnosed with IP 6 weeks after birth. This is her story.
Other resource N48 National Library of Medicine: Laurence-Moon Syndromehttp://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Laurence-Moon+syndrome&field=name National Library of Medicine: Laurence-Moon SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Laurence-Moon_Syndrome A look at its former names, a summary and a list of clinical features.
Other resource N49 National Urea Cycle Disorders Foundationhttp://www.nucdf.org/ National Urea Cycle Disorders FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Urea_Cycle Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information.
Other resource N50 The FSP Support Grouphttp://www.fspgroup.org The FSP Support GroupTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia For people suffering from Familial Spastic Paraplegia. Includes a newsletter, discussion forum, links, and contact details.
Other resource N51 Spastic Paraplegia Foundationhttp://sp-foundation.org/ Spastic Paraplegia FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_Paraplegia Supports on the upper motor neuron disorders hereditary spastic paraplegia and primary lateral sclerosis. Information about these conditions, disability resources, newsletters, news, announcements, research and support.
Other resource N52 MCW Healthlinkhttp://healthlink.mcw.edu/article/921961934.html MCW HealthlinkTop/Health/Conditions_and_Diseases/Genetic_Disorders/Soto's_Syndrome An article about soto's syndrome with an explanation of what it is, the features, symptoms and the prognosis.
Other resource N53 International Society for Mannosidosis & Related Diseaseshttp://www.mannosidosis.org International Society for Mannosidosis & Related DiseasesTop/Health/Conditions_and_Diseases/Genetic_Disorders/Mannosidosis Information about the organization, its mission and services. Provides support, education and research on Alpha Mannosidosis and other similar disorders.
Other resource N54 Justin Comeauhttp://personal.nbnet.nb.ca/justin03/ Justin ComeauTop/Health/Conditions_and_Diseases/Genetic_Disorders/Zellweger_Syndrome A personal page about a little boy who has Zellweger syndrome. Offers family pictures, information about the disease and the personal story of Justin.
Other resource N55 National Library of Medicinehttp://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Weaver+syndrome&field=name National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Weaver_Syndrome Synonyms of Weaver syndrome, a summary and a list of major features.
Other resource N56 National Library of Medicinehttp://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Waardenburg+anophthalmia+syndrome&field=name National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Waardenburg_Syndrome Offers synonyms, a summary and a list of major features.
Other resource N57 The Andy Fundhttp://www.andy.org.mx The Andy FundTop/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Describes the health condition of a boy who was born with ectodermal dysplasia with immune deficiency caused by a mutation on the fourth part of the NEMO gene.
Other resource N58 Ectodermal Dysplasia Societyhttp://www.ectodermaldysplasia.org/ Ectodermal Dysplasia SocietyTop/Health/Conditions_and_Diseases/Genetic_Disorders/Ectodermal_Dysplasia Information about the organization as well as the ED condition. Includes links, news articles and contact details.
Other resource N59 NORD: Pseudoxanthoma Elasticumhttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pseudoxanthoma%20Elasticum%20%28PXE%29 NORD: Pseudoxanthoma ElasticumTop/Health/Conditions_and_Diseases/Genetic_Disorders/Pseudoxanthoma_Elasticum Offers a general discussion and resources for PXE.
Other resource N60 MJD Fact Sheethttp://glawen.freeyellow.com/joseph3.htm MJD Fact SheetTop/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Joseph In depth look at machado-joseph disease with some resources for further reading.
Other resource N61 NINDS: Lesch-Nyhan Syndromehttp://www.ninds.nih.gov/health_and_medical/disorders/lesch_doc.htm NINDS: Lesch-Nyhan SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Lesch-Nyhan_Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Other resource N62 National Library of Medicinehttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome272.html National Library of MedicineTop/Health/Conditions_and_Diseases/Genetic_Disorders/Dubowitz_Syndrome Dubowitz syndrome, a look at the synonyms, a summary and list of major features.
Other resource N63 Velo-Cardio-Facial Syndrome Educational Foundationhttp://vcfsef.org/ Velo-Cardio-Facial Syndrome Educational FoundationTop/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-Cardio-Facial_Syndrome 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.
Other resource N64 NORD - Velocardiofacial Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofacial%20Syndrome NORD - Velocardiofacial SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-Cardio-Facial_Syndrome A list of the synonyms, a general discussion and further resources.
Other resource N65 A-Z Deafblindnesshttp://www.deafblind.com/usher.html A-Z DeafblindnessTop/Health/Conditions_and_Diseases/Genetic_Disorders/Usher_Syndrome 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.
Other resource N66 Zach's Opitz Syndrome Sitehttp://www.opitzsyndrome.com Zach's Opitz Syndrome SiteTop/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome Offers information, a family's experience with this syndrome and links to the Opitz Family Network.
Other resource N67 NORD: Opitz Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Mannosidosis NORD: Opitz SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome A look at the alternate names, a general discussion and resources.
Other resource N68 NORD: Thrombocytopenia Absent Radius Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Thrombocytopenia%20Absent%20Radius%20Syndrome NORD: Thrombocytopenia Absent Radius SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Thrombocytopenia_Absent_Radius_Syndrome Offers the synonyms, a general discussion and further resources.
Other resource N69 Sturge-Weber Syndrome Communityhttp://home.insightbb.com/~gnethi Sturge-Weber Syndrome CommunityTop/Health/Conditions_and_Diseases/Genetic_Disorders/Sturge-Weber_Syndrome Support group for individuals and families affected by SWS.
Other resource N70 NORD: Prune Belly Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Prune%20Belly%20Syndrome NORD: Prune Belly SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Prune_Belly_Syndrome Offers a list of synonyms, a general discussion and further resources.
Other resource N71 Yahoo! Groupshttp://groups.yahoo.com/group/robinow_syndrome/ Yahoo! GroupsTop/Health/Conditions_and_Diseases/Genetic_Disorders/Robinow_Syndrome A new email group for sharing and learning about Robinow syndrome. Join, post and read from this site.
Other resource N72 NORD: Russell Silver Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Russell%20Silver%20Syndrome%20%28RSS%29 NORD: Russell Silver SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Russell_Silver_Syndrome Offers a general discussion, the synonyms and further resources.
Other resource N73 Schizencephaly.comhttp://www.schizencephaly.com Schizencephaly.comTop/Health/Conditions_and_Diseases/Genetic_Disorders/Schizencephaly Dedicated to the family, friends, and caregivers of individuals with Schizencephaly. FAQs, forum, and resources.
Other resource N74 NORD: Smith Lemli Opitz Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith%20Lemli%20Opitz%20Syndrome NORD: Smith Lemli Opitz SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Smith_Lemli_Opitz_Syndrome Offers a brief description, the synonyms and further resources.
Other resource N75 PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome)http://www.prisms.org PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome)Top/Health/Conditions_and_Diseases/Genetic_Disorders/Smith-Magenis_Syndrome Details about the international support group organization and its mission as well as the condition. Includes an introduction, diagnosis, parent's corner, meet other people with SMS and educational considerations.
Other resource N76 Shwachman-Diamond Syndrome Internationalhttp://www.shwachman-diamond.org/ Shwachman-Diamond Syndrome InternationalTop/Health/Conditions_and_Diseases/Genetic_Disorders/Shwachman_Syndrome 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.
Other resource N77 NORD: Shwachman Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Shwachman%20Syndrome NORD: Shwachman SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Shwachman_Syndrome Offers a general discussion, the synonyms and further resources.
Other resource N78 The CaF Directoryhttp://www.cafamily.org.uk/Direct/p50.html The CaF DirectoryTop/Health/Conditions_and_Diseases/Genetic_Disorders/Proteus_Syndrome A definition of Proteus syndrome, its inheritance pattern, pre-natal diagnosis and a support group.
Other resource N79 National Library of Medicine: Multiple Pterygium Syndromehttp://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html National Library of Medicine: Multiple Pterygium SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Popliteal_Pterygium_Syndrome Includes the synonyms, a summary and the major features.
Other resource N80 NORD: Pallister Killian Mosaic Syndromehttp://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister%20Killian%20Mosaic%20Syndrome NORD: Pallister Killian Mosaic SyndromeTop/Health/Conditions_and_Diseases/Genetic_Disorders/Pallister_Killian_Mosaic_Syndrome Offers the synonyms, a general discussion and further resources.

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