site URL - http://www.helpachild.net
Site description: Founded by parents of three young children who suffer from Sanfilippo Syndrome, a degenerative genetic disorder that is usually fatal before the teens. Raising awareness of the condition and enlisting financial support.
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| LINK | URI & TITLE | DESCRIPTION & TOPIC | |
| Previous 10 | Genetic Interest Group | http://www.gig.org.uk Genetic Interest Group | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Organizations 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. |
| Previous | MPS III: Sanfilippo Syndrome | http://www.mpssociety.org/mps3.html MPS III: Sanfilippo Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Sanfilippo_Syndrome Information, including the causes, different forms, the inheritance and how the disorder progresses. |
| Random 1 | Frontline: Medicating Kids | http://www.pbs.org/wgbh/pages/frontline/shows/medicating/ Frontline: Medicating Kids | Top/Society/Issues/Education/Behavior_Medication A one hour documentary which examines the dramatic increase in the prescription of behavior-modifying drugs for children. |
| Random 2 | ScotDance Canada | http://www.scotdancecanada.com ScotDance Canada | Top/Arts/Performing_Arts/Dance/Folk_Dancing/Celtic/Scottish The governing body of highland dancing in Canada. Contains competition listing in Canada and the US, Championship steps, etc. |
| Random 3 | The Merck Manual | http://www.merck.com/pubs/mm_geriatrics/sec11/ch89.htm The Merck Manual | Top/Health/Conditions_and_Diseases/Cardiovascular_Disorders/Heart_Disease/Valvular Looks at stenosis and regurgitation for aortic, mitral and tricuspid valves, their symptoms and signs, diagnosis and treatment. A look at pulmonary valves and idiopathic hypertrophic subaortic stenosis. |
| Random 4 | Angioplasty | http://jrturner.tripod.com/id19.htm Angioplasty | Top/Health/Conditions_and_Diseases/Cardiovascular_Disorders/Vascular_Disorders An article and some images about this procedure. |
| Random 5 | International Medical Placement, LTD. | http://www.intlmedicalplacement.com/ International Medical Placement, LTD. | Top/Business/Healthcare/Employment/Recruitment_and_Staffing/Recruiters Recruitment firm for physicians and nursing. Provides information for international doctors wanting to practice in the US and searchable map of opportunities available. |
| Next | eMedicine | http://www.emedicine.com/NEURO/topic577.htm eMedicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Propionic_Acidemia An in depth look at Propionic acidemia. |
| Next 10 | InteliHealth - Eyes | http://www.intelihealth.com/IH/ihtIH/WSIHW000/28067/28067.html InteliHealth - Eyes | Top/Health/Conditions_and_Diseases/Eye_Disorders Medical information, articles, news, treatment, prevention and ask the expert. Information from Harvard Medical School. |
| Random 1 | Notre Dame Juggling Club | http://www.nd.edu/~juggling/ Notre Dame Juggling Club | Top/Arts/Performing_Arts/Circus/Juggling/Organizations/Clubs/College_and_University A juggling club run by students at the University of Notre Dame. Open to the public also. |
| Random 4 | Mircette | http://www.fda.gov/cder/foi/nda/98/20713.htm Mircette | Top/Health/Pharmacy/Drugs_and_Medications/D/Desogestrel/With_Ethinyl_Estradiol Drug review and approval details from the FDA. [Acrobat Reader required] |
| Random 4 | Kingston & Richmond Health Authority | http://www.krha.nhs.uk/ Kingston & Richmond Health Authority | Top/Regional/Europe/United_Kingdom/Health/National_Health_Service/Local_Health_Authorities Offering explanations of the organisation and its areas of operation. |
| Next 70 | Eye Institute of Canada | http://www.eyecanada.ca Eye Institute of Canada | Top/Health/Conditions_and_Diseases/Eye_Disorders/Low_Vision Offers low vision care by optometrists who specialize in low vision rehabilitation and low vision devices. |
| Previous 70 | Zach's Opitz Syndrome Site | http://www.opitzsyndrome.com Zach's Opitz Syndrome Site | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome Offers information, a family's experience with this syndrome and links to the Opitz Family Network. |
| Next 170 | DVA - Central Blind Rehabilitation Center | http://www.va.gov/hinesblindrehab DVA - Central Blind Rehabilitation Center | Top/Health/Conditions_and_Diseases/Eye_Disorders/Blindness/Organizations This site is designed to provide in-depth information about the Hines Blind Rehabilitation Center and provide resource information for Veterans. |
| Previous 170 | 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. |
| Next 270 | |||
| Previous 270 | North American Cystic Fibrosis Conference in New Orleans | http://www.nacfconference.org North American Cystic Fibrosis Conference in New Orleans | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Cystic_Fibrosis/Conferences Information on program and location. |
| Other resource N0 | Canadian Hemochromatosis Society | http://www.cdnhemochromatosis.ca/ Canadian Hemochromatosis Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Information about the symptoms, diagnosis and treatment of hemochromatosis. |
| Other resource N1 | Omim: Hemochromatosis | http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?235200 Omim: Hemochromatosis | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Detailed up-to-date scientific information on hemochromatosis. |
| Other resource N2 | Haemochromatosis Society UK | http://www.ghsoc.org/ Haemochromatosis Society UK | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Voluntary organisation for patients in England, Wales, Scotland and Northern Ireland. |
| Other resource N3 | Hemochromatosis Information Society | http://www.hemoinfo.org Hemochromatosis Information Society | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemochromatosis Offers information about the symptoms and treatment of hereditary hemochromatosis. |
| Other resource N4 | IPH-Net | http://iphnet.tripod.com IPH-Net | Top/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 N5 | National Library of Medicine: Joubert syndrome | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome375.html National Library of Medicine: Joubert syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Syndrome Synonyms, a summary and a list of major features for this disorder. |
| Other resource N6 | The Genetics of Joubert Syndrome and Related Disorders | http://www.ccm.ucsd.edu/jsrd.htm The Genetics of Joubert Syndrome and Related Disorders | Top/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 N7 | MedicineNet | http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=3382 MedicineNet | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Familial_Hypercholesterolemia A brief article about familial hypercholesterolemia. |
| Other resource N8 | NORD: Crigler Najjar Syndrome Type I | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Crigler%20Najjar%20Syndrome%20Type%20I NORD: Crigler Najjar Syndrome Type I | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome General information and further resources. |
| Other resource N9 | NINDS: Coffin Lowry Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm NINDS: Coffin Lowry Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin_Lowry_Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. |
| Other resource N10 | Klinefelter Syndrome Support | http://klinefeltersyndrome.org Klinefelter Syndrome Support | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome Educational and support information about Klinefelter Syndrome/XXY and its variants. |
| Other resource N11 | Klinefelter's Syndrome gynecomastia | http://www.plasticsurgery4u.com/procedure_folder/male_breast4.html Klinefelter's Syndrome gynecomastia | Top/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 N12 | 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 N13 | My Klinefelter's Syndrome Page | http://www.geocities.com/WestHollywood/Castro/4998/klinefel.html My Klinefelter's Syndrome Page | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Klinefelter_Syndrome David Brager's story, with information about Klinefelter's. |
| Other resource N14 | Klinefelter Syndrome - The Ohio Support Network | http://www.klinefelter-ohio.com Klinefelter Syndrome - The Ohio Support Network | Top/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 N15 | The CaF Directory | http://www.cafamily.org.uk/Direct/b12.html The CaF Directory | Top/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 N16 | Adam.com: An Overview | http://www.nlm.nih.gov/medlineplus/ency/article/001186.htm Adam.com: An Overview | Top/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 N17 | Beckwith-Wiedemann Support Group | http://www.ukindex.info/bwsg Beckwith-Wiedemann Support Group | Top/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 N18 | National Library of Medicine: FHS | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome300.html National Library of Medicine: FHS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Floating-Harbor_Syndrome Floating-harbor syndrome, the synonyms, a summary and a list of major features. |
| Other resource N19 | Von Hippel-Lindau Family Alliance | http://www.vhl.org/ Von Hippel-Lindau Family Alliance | Top/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 N20 | Von Hippel-Lindau Disease | http://www.ninds.nih.gov/health_and_medical/disorders/vonhippe_doc.htm Von Hippel-Lindau Disease | Top/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 N21 | Medstudents | http://www.medstudents.com.br/raredi/raredi3.htm Medstudents | Top/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 N22 | U-M Kellogg Eye Center | http://www.kellogg.umich.edu/patientcare/conditions/nail-patella.html U-M Kellogg Eye Center | Top/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 N23 | Alpha 1 Awareness Alliance | http://www.kama.u-net.com Alpha 1 Awareness Alliance | Top/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 N24 | Patient UK | http://www.patient.co.uk/showdoc.asp?doc=90 Patient UK | Top/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 N25 | Alpha-1 Community | http://windless.f2o.org Alpha-1 Community | Top/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 N26 | The Natey Foundation | http://www.nateyfoundation.org/ The Natey Foundation | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Batten Information for parents and families of Battens victims. |
| Other resource N27 | Nathan's Battle | http://www.nathansbattle.com Nathan's Battle | Top/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 N28 | The Luke and Rachel Batten Foundation | http://lrbf.org The Luke and Rachel Batten Foundation | Top/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 N29 | MedicineNet.com - Medical Dictionary | http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=3721 MedicineNet.com - Medical Dictionary | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Angioedema A brief article about hereditary angioedema. |
| Other resource N30 | C-1 Esterase Deficiency | http://www.emedicine.com/med/topic420.htm C-1 Esterase Deficiency | Top/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 N31 | Treacher Collins Syndrome - A Personal View | http://www.treachercollins.co.uk Treacher Collins Syndrome - A Personal View | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages UK based website, containing information about the disorder, with helpful links and discussion forum. |
| Other resource N32 | Robert Kenneth Picklesimer | http://www.picklesimers.com/robert_kenneth.html Robert Kenneth Picklesimer | Top/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 N33 | Story of Robert Purkis | http://swpurkis.pwp.blueyonder.co.uk/index.html Story of Robert Purkis | Top/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 N34 | Unlucky Mutant | http://unluckymutant.no.sapo.pt Unlucky Mutant | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Personal_Pages The author request help from geneticists, neuroscientists, pharmaceuticals or biotech companies. |
| Other resource N35 | Moebius Syndrome Foundation | http://www.ciaccess.com/moebius/ Moebius Syndrome Foundation | Top/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 N36 | 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 N37 | National Library of Medicine: LS | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome401.html National Library of Medicine: LS | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndrome Lowe syndrome, the synonyms, a summary and list of major features. |
| Other resource N38 | THCME Medical Biochemistry Page: Fatty Acid Oxidation | http://web.indstate.edu/thcme/mwking/fatty-acid-oxidation.html THCME Medical Biochemistry Page: Fatty Acid Oxidation | Top/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 N39 | Adam's LCHAD Page | http://www.adamslchad.com Adam's LCHAD Page | Top/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 N40 | Hemihypertrophy | http://www.geocities.com/HotSprings/Spa/6112 Hemihypertrophy | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Hemihypertrophy For patient and family, support and information regarding this disease. Related links and mailing list. |
| Other resource N41 | NORD: Meckel Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Meckel%20Syndrome NORD: Meckel Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel-Gruber_Syndrome A general discussion and alternate names along with further resources. |
| Other resource N42 | Dr. Greene's HouseCalls | http://www.drgreene.com/body.cfm?id=21&action=detail&ref=599 Dr. Greene's HouseCalls | Top/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 N43 | National Library of Medicine | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome067.html National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti Bloch-sulzberger syndrome, the synonyms, a summary and major features. |
| Other resource N44 | Vanderbilt Medical Center | http://www.mc.vanderbilt.edu/peds/pidl/nutrit/incont.htm Vanderbilt Medical Center | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Incontinentia_Pigmenti An article about incotinentia pigmenti. |
| Other resource N45 | Incontinentia Pigmenti: All About Anna | http://mom_2_three_ip.tripod.com/ Incontinentia Pigmenti: All About Anna | Top/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 N46 | National Library of Medicine: Laurence-Moon Syndrome | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Laurence-Moon+syndrome&field=name National Library of Medicine: Laurence-Moon Syndrome | Top/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 N47 | National Urea Cycle Disorders Foundation | http://www.nucdf.org/ National Urea Cycle Disorders Foundation | Top/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 N48 | The FSP Support Group | http://www.fspgroup.org The FSP Support Group | Top/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 N49 | Spastic Paraplegia Foundation | http://sp-foundation.org/ Spastic Paraplegia Foundation | Top/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 N50 | MCW Healthlink | http://healthlink.mcw.edu/article/921961934.html MCW Healthlink | Top/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 N51 | International Society for Mannosidosis & Related Diseases | http://www.mannosidosis.org International Society for Mannosidosis & Related Diseases | Top/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 N52 | Justin Comeau | http://personal.nbnet.nb.ca/justin03/ Justin Comeau | Top/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 N53 | National Library of Medicine | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Weaver+syndrome&field=name National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Weaver_Syndrome Synonyms of Weaver syndrome, a summary and a list of major features. |
| Other resource N54 | National Library of Medicine | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Waardenburg+anophthalmia+syndrome&field=name National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Waardenburg_Syndrome Offers synonyms, a summary and a list of major features. |
| Other resource N55 | The Andy Fund | http://www.andy.org.mx The Andy Fund | Top/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 N56 | Ectodermal Dysplasia Society | http://www.ectodermaldysplasia.org/ Ectodermal Dysplasia Society | Top/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 N57 | NORD: Pseudoxanthoma Elasticum | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pseudoxanthoma%20Elasticum%20%28PXE%29 NORD: Pseudoxanthoma Elasticum | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Pseudoxanthoma_Elasticum Offers a general discussion and resources for PXE. |
| Other resource N58 | MJD Fact Sheet | http://glawen.freeyellow.com/joseph3.htm MJD Fact Sheet | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Joseph In depth look at machado-joseph disease with some resources for further reading. |
| Other resource N59 | NINDS: Lesch-Nyhan Syndrome | http://www.ninds.nih.gov/health_and_medical/disorders/lesch_doc.htm NINDS: Lesch-Nyhan Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Lesch-Nyhan_Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. |
| Other resource N60 | National Library of Medicine | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome272.html National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Dubowitz_Syndrome Dubowitz syndrome, a look at the synonyms, a summary and list of major features. |
| Other resource N61 | Velo-Cardio-Facial Syndrome Educational Foundation | http://vcfsef.org/ Velo-Cardio-Facial Syndrome Educational Foundation | Top/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 N62 | NORD - Velocardiofacial Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofacial%20Syndrome NORD - Velocardiofacial Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-Cardio-Facial_Syndrome A list of the synonyms, a general discussion and further resources. |
| Other resource N63 | A-Z Deafblindness | http://www.deafblind.com/usher.html A-Z Deafblindness | Top/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 N64 | Zach's Opitz Syndrome Site | http://www.opitzsyndrome.com Zach's Opitz Syndrome Site | Top/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 N65 | NORD: Opitz Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Mannosidosis NORD: Opitz Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz_Syndrome A look at the alternate names, a general discussion and resources. |
| Other resource N66 | NORD: Thrombocytopenia Absent Radius Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Thrombocytopenia%20Absent%20Radius%20Syndrome NORD: Thrombocytopenia Absent Radius Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Thrombocytopenia_Absent_Radius_Syndrome Offers the synonyms, a general discussion and further resources. |
| Other resource N67 | Sturge-Weber Syndrome Community | http://home.insightbb.com/~gnethi Sturge-Weber Syndrome Community | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Sturge-Weber_Syndrome Support group for individuals and families affected by SWS. |
| Other resource N68 | NORD: Prune Belly Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Prune%20Belly%20Syndrome NORD: Prune Belly Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Prune_Belly_Syndrome Offers a list of synonyms, a general discussion and further resources. |
| Other resource N69 | Yahoo! Groups | http://groups.yahoo.com/group/robinow_syndrome/ Yahoo! Groups | Top/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 N70 | NORD: Russell Silver Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Russell%20Silver%20Syndrome%20%28RSS%29 NORD: Russell Silver Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Russell_Silver_Syndrome Offers a general discussion, the synonyms and further resources. |
| Other resource N71 | Schizencephaly.com | http://www.schizencephaly.com Schizencephaly.com | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Schizencephaly Dedicated to the family, friends, and caregivers of individuals with Schizencephaly. FAQs, forum, and resources. |
| Other resource N72 | NORD: Smith Lemli Opitz Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith%20Lemli%20Opitz%20Syndrome NORD: Smith Lemli Opitz Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Smith_Lemli_Opitz_Syndrome Offers a brief description, the synonyms and further resources. |
| Other resource N73 | 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 N74 | Shwachman-Diamond Syndrome International | http://www.shwachman-diamond.org/ Shwachman-Diamond Syndrome International | Top/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 N75 | NORD: Shwachman Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Shwachman%20Syndrome NORD: Shwachman Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Shwachman_Syndrome Offers a general discussion, the synonyms and further resources. |
| Other resource N76 | The CaF Directory | http://www.cafamily.org.uk/Direct/p50.html The CaF Directory | Top/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 N77 | National Library of Medicine: Multiple Pterygium Syndrome | http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html National Library of Medicine: Multiple Pterygium Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Popliteal_Pterygium_Syndrome Includes the synonyms, a summary and the major features. |
| Other resource N78 | NORD: Pallister Killian Mosaic Syndrome | http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister%20Killian%20Mosaic%20Syndrome NORD: Pallister Killian Mosaic Syndrome | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Pallister_Killian_Mosaic_Syndrome Offers the synonyms, a general discussion and further resources. |
| Other resource N79 | Pallister-Hall Syndrome: A Layman's Guide | http://www.pallisterhall.com/ Pallister-Hall Syndrome: A Layman's Guide | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Pallister-Hall_Syndrome For PHS patients, their care givers, and medical practitioners. |
| Other resource N80 | National Library of Medicine | http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Noonan+syndrome&field=name National Library of Medicine | Top/Health/Conditions_and_Diseases/Genetic_Disorders/Noonan_Syndrome Includes the alternate names, a summary and a list of major features for Noonan syndrome. |