21. Noonan Syndrome Tips for printing. noonan syndrome Special Resources SOS Ask experts or consultantsfor information noonan syndrome. A Selection of Internet Sites. http://ibis-birthdefects.org/start/noonan.htm

Tips for printing Noonan Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and Male Turner Syndrome Noonan Syndrom Noonan Syndrome Noonanovej Syndròm Pseudo-Turner Syndrome Pterigium Colli Syndrome Sindrome di Noonan Turner-Like Syndrome Turner Phenotype with Normal Karyotype Watson Syndrome (Neurofibromatosis) Special Resources Noonan Syndrome A Selection of Internet Sites [*] Outstanding [P] Professionals [S] Support Groups [Italian] [Slovakian] [Danish] [German] [Norwegian] [*][P] Noonan syndrome 1; NS1 OMIM. The disorder now known as Noonan syndrome bears similarities to the disorder described by Turner (1938) and shown by Ford et al. (1959) to have its basis in a 45,X chromosomal aberration ... Noonan (1968) reported 19 cases of whom 17 had pulmonary stenosis and 2 had patent ductus arteriosus. Twelve were males and 7 were females. Deformity of the sternum with precocious closure of sutures was a frequent feature .. [*][P] Noonan Syndrome Birth Defects Foundation. Noonan Syndrome Booklet. This booklet, is intended for individuals with Noonan Syndrome, parents, professionals and friends. It has been produced to encourage greater awareness, and provide a brief overview of current available information ...

22. Noonan Syndrome noonan syndrome up. noonan syndrome booklet, Information in the booklet covers featuresof noonan syndrome, diagnosis, occurrence, genetics, and management. http://omni.ac.uk/browse/mesh/detail/C0028326L0028326.html

Noonan Syndrome [up] Related topics: broader Connective Tissue Diseases other Cellulitis Collagen Diseases Dermatomyositis Dupuytren's Contracture ... Noonan syndrome booklet This booklet is aimed at individuals with Noonan Syndrome, their parents, and professionals, and is published by the Birth Defects Foundation, a UK based charity. It has been produced in order to encourage greater awareness, and provide a brief overview of current available information on the syndrome. Information in the booklet covers features of Noonan Syndrome, diagnosis, occurrence, genetics, and management. There is also a question and answer section, and a glossary of terms. This booklet has been prepared by the Noonan Syndrome Research Unit at St George’s Hospital Medical School, London, which is funded by the Birth Defects Foundation. It is 16 pages and is in PDF, which requires Adobe Acrobat Reader. Abnormalities Noonan Syndrome Patient Education Handout [Publication Type] Last modified 28/Mar/2003 [Low Graphics]

23. Noonan Syndrome Booklet Back to whats new page. noonan syndrome booklet, Information in the booklet coversfeatures of noonan syndrome, diagnosis, occurence, genetics, and management. http://omni.ac.uk/whatsnew/detail/3004694.html

Back to whats new page. Noonan syndrome booklet This booklet is aimed at individuals with Noonan Syndrome, their parents, and professionals, and is published by the Birth Defects Foundation, a UK based charity. It has been produced in order to encourage greater awareness, and provide a brief overview of current available information on the syndrome. Information in the booklet covers features of Noonan Syndrome, diagnosis, occurence, genetics, and management. There is also a question and answer section, and a glossary of terms. This booklet has been prepared by the Noonan Syndrome Research Unit at St George’s Hospital Medical School, London, which is funded by the Birth Defects Foundation. It is 16 pages and is in PDF format requiring the Adobe Acrobat Reader. Noonan Syndrome Patient Education Abnormalities Last modified 21/Jul/2001 [Low Graphics]

24. Noonan Syndrome Library M N. noonan syndrome. Who to Contact. The noonan syndromeSupport Group, Inc. PO Box 145 Upperco, MD. 21155 USA 888-686-2224 http://www.familyvillage.wisc.edu/lib_noon.htm

Noonan Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Noonan Syndrome" Who to Contact The Noonan Syndrome Support Group, Inc. P.O. Box 145 Upperco, MD. 21155 USA 888-686-2224 (U.S.) 410-374-5245 (all others) E-mail: wandar@bellatlantic.net Where to Go to Chat with Others NOONAN-SYNDROME Noonan Syndrome e-mail disscussion list. To subscribe, send a message to: listserv@home.ease.lsoft.com In the body of the message type: SUBSCRIBE NOONAN-SYNDROME Learn More About It Noonan Syndrome Information from Ped Base Noonan Syndrome Information from OMIM Noonan Syndrome Web Sites Noonan Syndrome Support Groups Web Page Noonan Syndrome Society Back to [ M - N Family Village Home Library Coffee Shop ... Information Last Updated April 29, 1999 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_noon.htm

25. HONselect - Noonan Syndrome English noonan syndrome, Turner's Syndrome, Male - Male Turner's Syndrome -Syndrome, Male Turner's - Syndrome, Noonan - Turner Syndrome, Male - Turners http://www.hon.ch/HONselect/RareDiseases/C05.660.207.690.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Noonan Syndrome - Turner's Syndrome, Male - Male Turner's Syndrome - Syndrome, Male Turner's - Syndrome, Noonan - Turner Syndrome, Male - Turners Syndrome, Male Français: NOONAN, SYNDROME - SYNDROME NOONAN Deutsch: Noonan-Syndrom - Turner-Syndrom, männliches - Pseudo-Ulrich-Turner-Syndrom Español: SINDROME DE NOONAN - SINDROME DE TURNER MASCULINO Português: SINDROME DE NOONAN - SINDROME DE TURNER MASCULINA HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C05.660.207.690.html Last modified: Thu Jul 25 2002

26. Special Child: Disorder Zone Archives - Noonan Syndrome noonan syndrome noonan syndrome (NS) is a genetic disorder characterized by distinctfacial characteristics, short stature, and congenital cardiac defects. http://www.specialchild.com/archives/dz-033.html

Disorder Zone Archives Noonan Syndrome Alex Bleyhl Introduction Noonan syndrome (NS) is a genetic disorder characterized by distinct facial characteristics, short stature, and congenital cardiac defects. NS is believed to occur in 1 out of every 1,000 live births and it affects both males and females equally. NS can be hereditary and is considered autosomal dominant, where the affected gene only needs to be passed on by one parent. A parent with the defective gene has a 50% chance of passing it on to his or her child. Frequently, however, NS can be a sporadic syndrome (or caused by a new mutation), affecting only one family member. Women appear to pass on the gene three times more often than men. NS was first described in 1963 by a pediatric cardiologist named Jacqueline Noonan. Dr. Noonan recognized that an unusual heart defect (valvular pulmonary stenosis) was sometimes accompanied by short stature and a characteristic physical appearance with a webbed neck, wide-spaced eyes, and low-set ears. Features and Characteristics There are many characteristics associated with NS. Not every child has all the characteristics, however, the following is a list of traits that have been reported:

27. WebRing: Hub Similar pages noonan syndromenoonan syndrome The noonan syndrome Support Group Website. noonan syndrome Whoto Contact Where to Go to Chat with Others Learn More About It. noonan syndrome. http://www.webring.org/cgi-bin/webring?home&ring=noonan

28. Noonan Syndrome, Cincinnati Childrens Hospital Medical Center noonan syndrome features, heart problems and inheritance information from the HeartEncyclopedia by the Heart Center staff at Cincinnati Children's Hospital http://www.cincinnatichildrens.org/Health_Topics/heart-encyclopedia/disease/synd

Heart Center Encyclopedia Introduction Cardiac Anomalies / Congenital Heart Defects Heart Diseases ... Turner Syndrome Noonan Syndrome Down Syndrome Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL (VATER) Association ... Glossary Heart-Related Syndromes Noonan Syndrome Features, Heart Problems and Inheritance Explanation Features Heart Problems Other Problems ... Inheritance What is Noonan syndrome? Noonan syndrome is a genetic disorder originally described by Noonan and Ehmke in 1963. The majority of early patients recognized to have this syndrome were boys, but it is now clear that girls are equally affected. Noonan syndrome occurs in about 1/1,000 to 1/2,500 live births. The actual genetic abnormality has not yet been discovered. Noonan syndrome features found in infants Babies with Noonan syndrome may be diagnosed in infancy because of unusual facial features, including closely spaced and down-slanted eyes and ears that are positioned low on the head and rotated to the back. The vertical groove lying in the space between the upper lip and nose is deep and the jaw is small. There is excess neck skin and the hairline is low on the back of the neck.

29. Noonan, Syndrome : Sites Et Documents Francophones Translate this page Synonyme(s) syndrome noonan. Arborescence(s) du thesaurus MeSHcontenant le mot-clé Noonan, syndrome noonan syndrome http://www.chu-rouen.fr/ssf/pathol/noonansyndrome.html

Noonan, Syndrome Menu général CISMeF Synonyme(s) syndrome noonan Arborescence(s) Noonan, syndrome Noonan syndrome appareil locomoteur, maladies maladies et malformations congénitales, héréditaires et néonatales maladies peau et tissu conjonctif Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : patient Association Française du Syndrome de Noonan mots clés : France Noonan, syndrome type(s) : association patients forum et liste de diffusion patients rapport technique Enquête de Prévalence Nationale des infections nosocomiales 2001 - résultats préliminaires - 5 mars 2002, Réseau d’Alerte d’Investigation et de surveillance des Infections Nosocomiales (RAISIN) [Site éditeur InVS mots clés : France infection hospitalière épidémiologie Noonan, syndrome ... prévalence type(s) : rapport technique 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

30. The DRM WebWatcher: Noonan Syndrome This section of The DRM WebWatcher describes the best online resources aboutnoonan syndrome. Check these sites for information about noonan syndrome. http://www.disabilityresources.org/NOONAN.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Noonan Syndrome Updated 3/24/2000 A B C D ... About/Hint/Link Noonan Syndrome is a genetic disorder commonly associated with congenital heart disease and short stature. Check these sites for information about Noonan syndrome. Noonan Syndrome Support Group Lots of information and resouces about the syndrome, a quarterly newsletter, photos, links, and information about the group. Many of the articles on the site are not easy to find through the home page; we suggest using the site map instead. Noonan Syndrome Society The web page of this British group includes a brief overview of the syndrome, a list of Noonan syndrome support groups worldwide, and information and resources. Related topics: Growth Disorders Heart Disorders Rare Disorders Resources in your state (c) 1997-2000 Disability Resources, inc.

31. Noonan Syndrome noonan syndrome. Synonynms Its after her that this syndrome has been named.noonan syndrome is inherited as an autosomal dominant condition. http://www.manbir-online.com/diseases/noonan.htm

Sorry, your browser doesn't suppor Java. Noonan Syndrome Synonynms webbed neck syndrome male Turner syndrome female pseudo-Turner syndrome Jacqueline Noonan, paediatrician and heart specialist in 1963, published a report on a small group of patients with typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. Its after her that this syndrome has been named. Noonan syndrome is inherited as an autosomal dominant condition. This means that the Noonan gene is on a non-sex (autosomal) chromosome and is transmitted from parent with a 50% probability to child. Although one dose of the Noonan gene is enough to cause the syndrome. A gene for Noonan syndrome (NS1) has been mapped to chromosome number 12. There are several different Noonan genes. The frequency of the Noonan syndrome is estimated to be between 1:1,000 and 1:2,500 in the general population Main features of this syndrome are: Pulmonary Stenosis Short stature after birth Webbing of Neck Caved in Chest Bones In boys, Testes that do not descend into the scrotum

32. Noonan Syndrome HOME noonan syndrome (Female PseudoTurner Syndrome, Male Turner Syndrome,Turner Phenotype with Normal Karyotype). Founder of The http://www.bdid.com/noonan.htm

HOME Noonan Syndrome (Female Pseudo-Turner Syndrome, Male Turner Syndrome, Turner Phenotype with Normal Karyotype) Founder of The Noonan Syndrome Support Group, Inc. NOONAN SYNDROME Noonan, syndrome : sites francophones Noonan Syndrome ... HOME

33. Birth Disorder Information Directory - N Nontropical Sprue See Celiac Disease/Sprue. noonan syndrome (Female PseudoTurnerSyndrome, Male Turner Syndrome, Turner Phenotype with Normal Karyotype) http://www.bdid.com/defectn.htm

HOME N N-Acetylglutamate Synthetase Deficiency N-acetylglutamate synthetase deficiency HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY N5-Methylhomocysteine Transferase Deficiency See Methionine Synthase Deficiency NADH-CoQ Reductase Deficiency of (Complex I Mitochondrial Respiratory Chain, Deficiency of) COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF NADH-CoQ reductase Naegeli (Franceschetti Jadassohn) Syndrome NAEGELI SYNDROME Nager Syndrome See Acrofacial Dystenosis, Nager Type Naguib Richieri Costa Syndrome See Acro Fronto Facio Nasal Dysostosis Nail-Patella Syndrome (Fong Disease) List of Sites Najjar Syndrome See Cardiogenital Syndrome Nakajo Nishimura Syndrome (Amyotrophy Fat Tissue Anomaly) Amyotrophy fat tissue anomaly Nance Horan Syndrome (Cataract-Dental Syndrome; Cataract, X-Linked, with Hutchinsonian Teeth; Mesiodens-Cataract Syndrome) CATARACT-DENTAL SYNDROME Nance-Horan syndrome Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia) CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS Chondrodystrophy sensorineural deafness Nance Sweeny Chondrodysplasia See Nance Insley Syndrome Nanism Due to Growth Hormone Isolated Deficiency See Growth Hormone Deficiency Nanocephalic Dwarfism See Bird-Headed Dwarfism Nanophthalmia/Nanophthalmos Autosomal Recessive See Anophthalmia/Anophthalmos, Clinical

34. Noonan Syndrome Support Group, Inc. Information And Resources This site has been moved. Please update your bookmarks. http://my.execpc.com/~caac/ns/nsindex.htm

This site has been moved. Please update your bookmarks. This site has been moved. Please update your bookmarks.

35. Health Information Resource Database: Noonan Syndrome Support Group, Inc. noonan syndrome Support Group, Inc. noonan syndrome News, quarterly newsletter; Membershave access to the most recent articles published on noonan syndrome. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2560

36. Noonan's Syndrome (www.whonamedit.com) Noonan's syndrome A complex familial syndrome similar to Turner’s, with the Turnerphenotype, but there is no chromosomal defect and noonan syndrome occurs http://www.whonamedit.com/synd.cfm/1920.html

Home List categories Eponyms A-Z Biographies by country ... Contact Noonan's syndrome Also known as: Familial Turner syndrome Female pseudo Turner syndrome Pseudo Turner syndrome Male Turner syndrome Pseudo Ullrich-Turner syndrome Turner-like syndrome Turner's phenotype with normal karotype Turner's syndrome in female with X-chromosome Ullrich-Noonan syndrome XX Turner phenotype syndrome Turner phenotype syndrome Associated persons: Jacqueline Anne Noonan Otto Ullrich Description: Jacquline A. Noonan and Dorothy Ehmke [American cardiologist/paediatrician] in 1963 defined the syndrome on the basis of clinical and cytogenetic findings in six boys and three girls with valvular pulmonary stenosis, short stature, hypertelorism and skeletal anomalies, and, in boys, retentio testis. In a later publication (1968) Noonan described a total of 19 patients of both sexes with unusual facies, congenital heart defect and other symptoms resembling those of Turner’s syndrome. However, the patients had normal chromosomes. While at Iowa, Noonan, together with Dorothy Ehmke, conducted a clinical investigation, which included 833 children with congenital heart disease who were carefully studied for the presence of additional extra-cardiac anomalies. Nine of these children had a similar characteristic facies and pulmonary stenosis. These patients were reported by Noonan to the Midwest Society of Pediatric Research held in Cincinnati in 1962.

37. Saldino-Noonan Syndrome (www.whonamedit.com) Saldinonoonan syndrome A lethal form of neonatal chondrodystrophy which ischaracterised by polydactyly and severe short limb dwarfism. Who named it? http://www.whonamedit.com/synd.cfm/1992.html

Home List categories Eponyms A-Z Biographies by country ... Contact Saldino-Noonan syndrome Synonyms: Polydactyly with neonatal chondrodystrophy type II, short rib-polydactyly syndrome type II. Associated persons: C. D. Noonan Ronald M. Saldino Description: A lethal form of neonatal chondrodystrophy which is characterised by polydactyly and severe short limb dwarfism. Symptoms are hydropic appearance with a narrow thorax, very short flipperlike limbs, and postaxial polydactyly. Associated abnormalities include brachydactyly, prominent abdomen, multiple cardiovascular defects (mostly transposition of the great vessel), hypoplastic lungs, anal atresia, and genital abnormalities. Inheritance is autosomal recessive. The two patients reported by Saldino and Noonan in 1972 were siblings. Bibliography: R. M. Saldino, C. D. Noonan: Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. American Journal of Roentgenology, Leesburg, Virginia, 1972. 114: 257. Ole Daniel Enersen

38. Noonan Syndrome From Pediatrics / Genetics And Metabolic Disease noonan syndrome noonan syndrome was first recognized as a unique entity in1963 when Noonan and Ehmke described a series of patients with unusual http://author.emedicine.com/PED/topic1616.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Noonan Syndrome Synonyms, Key Words, and Related Terms: hypertelorism, down-slanting eyes, webbed neck, congenital heart disease Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Jennifer Ibrahim, MD , Fellow, Department of Pediatrics, Division of Genetics, Children's Hospital of New Jersey and Mount Sinai School of Medicine Coauthored by Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Jennifer Ibrahim, MD, is a member of the following medical societies: American Society of Human Genetics Edited by Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Robert Anthony Saul, MD

39. SupportPath.com: Noonan Syndrome noonan syndrome. noonan syndrome is a rare congenital disorder occuring only in males. NoneListed. Clinical Trials Research on noonan syndrome None Listed. http://www.supportpath.com/sl_n/noonan_syndrome.htm

Noonan Syndrome Noonan Syndrome is a rare congenital disorder occuring in males and females. It is characterized by short staure, distinctive facial features, and a congenital heart defect (most often Pulmonary Stenosis - narrowing at the pulmonary artery valve). Also called: NS Other topics of interest on SupportPath.com: Infertility Learning Disabilities Turner Syndrome Rare Disorders ... here Online Communities / Message Boards... None Listed Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... Noonan Syndrome Mailing List Website: None. Description: To subscribe, send an e-mail to listserv@home.ease.lsoft.com with the following command in the message body: subscribe noonan-syndrome Date Added: 01/09/2002 National / International Organizations... The Noonan Syndrome Support Group, Inc.

40. Noonan Syndrome Is A Condition, Which Affects Both Children And Adults noonan syndrome is a condition, which affects both children and adults. Wehave a daughter, now age 19, with suspected noonan syndrome. http://www.mkdowney.com/mkd-noonan.htm

Noonan Syndrome is a condition, which affects both children and adults. As with other disorders, it affects the person with the disorder and their family as well. We have found valuable resources for support and information as well as learned that "living with" a disability may always be a challenge, but does not have to incapacitate the person or the family. We have a daughter, now age 19, with suspected Noonan Syndrome. Often called a "hidden" condition, the children affected may have no obvious casual signs to the onlooker, but the problems may be many and complex with no clinical test available. Part of our frustration has been the inability to get positive proof of the syndrome, so we, like many others with "suspected NS", learn to manage her health and psychological care by joining groups who have members with similar defined characteristics and behaviors. We take help from as many resources as possible. Noonan Syndrome is a genetic condition that can affect the heart, growth, blood clotting, mental and physical development. Affected individuals may have behavior problems, learning difficulties and many other anomalies. In our daughter’s case, it was also found in conjunction with Asperger Syndrome. Asperger Syndrome is within the autism spectrum. There are many characteristics within the spectrum and through experience as a mom and educator/speaker I have found many others with Noonan Syndrome who share some of these same autistic/like characteristics as our daughter. For that reason we stay in contact with those having Asperger syndrome as well as those having NS.

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