41. Birth Disorder Information Directory - N Nontropical Sprue See Celiac Disease/Sprue. noonan syndrome (Female PseudoTurner Syndrome, 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

42. Founder Of The Noonan Syndrome Support Group, Inc. Founder of The noonan syndrome Support Group, Inc. Two years ago the Alliance of Genetic Disorders asked me to become a support group for noonan syndrome. http://www.angelfire.com/md/wandarmd/

var cm_role = "live" var cm_host = "angelfire.lycos.com" var cm_taxid = "/memberembedded" Founder of The Noonan Syndrome Support Group, Inc. Hello, My name is Wanda Robinson Visit our web site at: http://www.noonansyndrome.org for more information about Noonan Syndrome. Show your support by ordering the groups pin: http://www.angelfire.com/md/wandarmd/TNSSGPIN.html for more information about the pin. Or call toll free 1-888-686-2224 within the USA or 410-374-5245. Sign My Guestbook View My Guestbook Places to go...... Talking about Wanda TNSSG, Inc. pin picture and information The prayer and wish page The Noonan Syndrome Support Group, Inc. Email: wandar@bellatlantic.net

43. Congenital Heart Disease Guide: Noonan Syndrome noonan syndrome Click to print page. People with noonan syndrome are usually rather small, they may have extra skin on the side of their neck. http://www.med.nus.edu.sg/paed/patient_education/chd_guide/syndromes/noonan.htm

Noonan Syndrome When a person has a syndrome they have similar characteristics to others with the same syndrome. This may include their appearance and medical problems. Syndromes are variable and it is unusual for someone to have all the characteristics - they may therefore be only slightly affected. Dr Noonan described this syndrome in the 1960s. It is a genetic condition and so there are often several people in the family affected. The underlying problem involves the 12 th chromosome. People with Noonan Syndrome are usually rather small, they may have extra skin on the side of their neck. They are similar in appearance to people with Turner Syndrome Heart Problems Two heart problems may occur in people with Noonan's syndrome. The most common is a thickening of the heart muscle called hypertrophic cardiomyopathy . It may occur even in young babies and can be treated with medication. The second problem is a narrowing of the valve in the artery going to the lung - pulmonary stenosis . The narrowing of the valve is caused by thickening of the valve leaflets. Stretching with a balloon may help but sometimes surgery is necessary. This page was last edited 17/2/2004 Congenital Heart Disease Guide ©CRKirk Acknowledgements Site Map Top of Page Home Last uploaded www.nuhkids.com/heart

44. Special Child: Disorder Zone Archives - Noonan Syndrome noonan syndrome. noonan syndrome (NS) is a genetic disorder characterized by distinct facial 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:

45. Noonan Syndrome noonan syndrome Important It is possible that the main title of the report noonan syndrome is not the name you expected. Please http://my.webmd.com/hw/raising_a_family/nord412.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Noonan Syndrome Important It is possible that the main title of the report Noonan Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Female Pseudo-Turner Syndrome Male Turner Syndrome Turner Phenotype with Normal Chromosomes (Karyotype) NS Disorder Subdivisions None General Discussion In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity). Resources Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545

46. Noonan Syndrome noonan syndrome Support Group. noonan syndrome noonan syndrome Support Group International network. Founded 1996. Provides information http://my.webmd.com/hw/raising_a_family/shc29noo.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... Noonan Syndrome Support Group Noonan Syndrome Noonan Syndrome Support Group International network. Founded 1996. Provides information for persons with Noonan syndrome, their families, and interested others. Networks individuals together for peer support. Information and referrals, speakers bureau, phone help. WRITE: Noonan Synd. Support Group P.O. Box 145 Upperco, MD 21155 CALL: 1-888-686-2224 E-MAIL: Wander@bellatlantic.net WEBSITE: http://www.nonansyndrome.org VERIFIED: 3/24/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

47. ► Noonan Syndrome Home Medical Reference Encyclopedia (English) Toggle English / Spanish noonan syndrome. noonan syndrome can be inherited in an autosomal dominant manner. http://www.umm.edu/ency/article/001656.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Maryland Heart Center Home Medical Reference Encyclopedia (English) Toggle English Spanish Noonan syndrome Overview Symptoms Treatment Prevention Definition: A genetic syndrome that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Alternative Names: Turner-like syndrome of males Causes, incidence, and risk factors: Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, i.e., presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called PTPN11, was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital heart disease (especially pulmonic stenosis ). Because these abnormalities resemble those of Turner syndrome (which only affects females), Noonan syndrome used to be called "male Turner syndrome", this term is not used because Noonan syndrome can affect females also.

48. Noonan Syndrome noonan syndrome. noonan syndrome booklet. Information in the booklet covers features of noonan syndrome, diagnosis, occurrence, genetics, and management. http://omni.ac.uk/browse/mesh/C0028326L0028326.html

low graphics Noonan Syndrome broader: Connective Tissue Diseases Craniofacial Abnormalities other: Cartilage Diseases Cellulitis Collagen Diseases Dermatomyositis ... 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. Patient Education Handout [Publication Type] Noonan Syndrome Abnormalities Last modified: 27 May 2004

49. NOONAN SYNDROME Features Listed For noonan syndrome. McKusick 163950. Abnormal auditory ossicles; Bleeding diatheses; Cardiomyopathy; Congenital cardiac anomaly, unspecified; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1227

50. Noonan Syndrome Articles, Support Groups, And Resources noonan syndrome articles, support groups, and resources for patients from Med Help International (www.medhelp.org). noonan syndrome. http://www.medhelp.org/HealthTopics/Noonan_Syndrome.html

[Health Topics A-Z] A B C D ... Z Noonan Syndrome Support Groups: Noonan Syndrome Support Group [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

51. HealthCentral - General Encyclopedia - Noonan Syndrome noonan syndrome. Causes, incidence, and risk factors In some families, noonan syndrome may have a maleto-male transmission pattern. The symptoms vary. http://www.healthcentral.com/mhc/top/001656.cfm

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52. Noonan Syndrome Tips for printing. noonan syndrome. Special Resources SOS Ask experts or consultants for 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 ...

53. Noonan Syndrome noonan syndrome. Alternative Names Definition noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. http://lebonheur.adam.com/pages/content.asp?genId=001656&proj=1&lang=en

54. Neurofibromatosis-Noonan Syndrome Or LEOPARD Syndrome? A Clinical Dilemma. Tullu Neurofibromatosisnoonan syndrome or LEOPARD Syndrome? Also, features of noonan syndrome and LEOPARD syndrome are compared with the case reported. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2000;volume=46;issue=2

55. Welcome To The UC Davis Children's Hospital Cleft & Craniofacial Program The noonan syndrome features are easier to see at birth and by adulthood they are often very subtle and can easily be missed. What http://www.ucdmc.ucdavis.edu/cleft/craniofacial/guide/about/noonansyndrome.html

Home Craniofacial Anomalies About Craniofacial Anomalies Team Approach to Care ... Scheduling an Appointment It is thought that this Syndrome occurs in somewhere between 1/1,000 and 1/ 2,500 newborn babies. The Noonan Syndrome features are easier to see at birth and by adulthood they are often very subtle and can easily be missed. What are the features of Noonan Syndrome? More serious problems include a smaller than normal jaw. This can create some feeding problems, and even in some cases lead to failure to thrive. Babies with this syndrome are also at an increased risk of cardiac defects. It is important to have a cardiac evaluation if Noonan Syndrome is diagnosed. Children with Noonan Syndrome may have a coagulation abnormality. This means that the blood may not clot as quickly as it should. There is a wide range in coagulation differences, ranging from more serious problems of clotting after surgery, to easy bruising, and even to an abnormality seen in the laboratory with no known clinical consequences. Can surgery help?

56. Noonan Syndrome noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). National Organization for Rare Disorders, Inc. noonan syndrome. http://www.bchealthguide.org/kbase/nord/nord412.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord412"; var hwDocTitle="Noonan Syndrome"; var hwRank="1"; var hwSectionHWID="nord412"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Noonan Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Female Pseudo-Turner Syndrome Male Turner Syndrome Turner Phenotype with Normal Chromosomes (Karyotype) NS Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Cardiofaciocutaneous Syndrome Turner Syndrome Costello Syndrome Noonan-Like Multiple Giant Cell Lesion Syndrome Neurofibromatosis-Noonan Syndrome Associated Congenital Disorders (General) General Discussion In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity).

57. Noonan Syndrome Provides information for persons with noonan syndrome, their families, and interested others. Networks individuals together for peer support. noonan syndrome. http://www.bchealthguide.org/kbase/shc/shc29noo.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29noo"; var hwDocTitle="Noonan Syndrome"; var hwRank="1"; var hwSectionHWID="shc29noo"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse Noonan Syndrome Noonan Syndrome Support Group International network. Founded 1996. Provides information for persons with Noonan syndrome, their families, and interested others. Networks individuals together for peer support. Information and referrals, speakers bureau, phone help. WRITE: Noonan Synd. Support Group P.O. Box 145 Upperco, MD 21155 CALL: 1-888-686-2224 E-MAIL: Wander@bellatlantic.net WEBSITE: http://www.nonansyndrome.org VERIFIED: 3/24/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

58. Encyclopaedia Topic : Noonan Syndrome, Section : Introduction NHS Direct Online Health Encyclopaedia. noonan syndrome. Search. Help. noonan syndrome is a genetic disorder. It affects between 1 in 1,000 to 1 in 2,500 people. http://www.nhsdirect.nhs.uk/en.asp?TopicID=767

59. Noonan's Syndrome (www.whonamedit.com) Noonan s syndrome A complex familial syndrome similar to Turner’s, with the Turner phenotype, 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 Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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.

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

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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:

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