21. Noonan Syndrome - Health And Medical Information: Diseases And Conditions, Medic MedicineNet Home Diseases Conditions AZ List noonan syndrome. Advanced Search. What is noonan syndrome? noonan syndrome is a http://www.medicinenet.com/Noonan_Syndrome/article.htm

MedicineNet Home > Noonan Syndrome Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Next page Noonan Syndrome What is Noonan syndrome? Why is it named Noonan syndrome? What did Noonan syndrome used to be called? (obsolete terms) What are the body features of Noonan syndrome? ... Noonan Syndrome At A Glance What is Noonan syndrome? Noonan syndrome is a multifaceted condition characterized by a series of birth defects (congenital malformations) including short stature after birth (postnatal growth retardation ), webbing of the neck (pterygium colli), caved-in chestbone (pectus excavatum), narrowing of the artery from the heart to the lungs (pulmonic stenosis) and, in boys, testes that do not descend normally into the scrotum (cryptorchidism). Why is it named Noonan syndrome? The accepted name of this disorder is Noonan syndrome. It is named after Dr. Jacqueline A. Noonan who in 1968 reported 19 cases with the condition including 17 with narrowing of the artery to the lungs (pulmonary stenosis). Twelve of Dr. Noonan's patients were male and 7 were female. Noonan was clearly not the first person to discover the condition that bears her name today. In 1883 Kobilinsky reported a young man with webbing of the neck and several other features suggestive of Noonan syndrome and in 1928 Weissenberg provided a full and unmistakable description of the disease. Noonan, in collaboration with D. A. Ehmke, rediscovered the condition and noted the association with pulmonic stenosis.

22. Noonan Syndrome - Health And Medical Information: Diseases And Conditions, Medic noonan syndrome (cont.). There are several different Noonan genes. One gene for esteem. noonan syndrome At A Glance. noonan syndrome http://www.medicinenet.com/Noonan_Syndrome/page2.htm

MedicineNet Home > Noonan Syndrome Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend Previous page Noonan Syndrome Index Next page Noonan Syndrome (cont.) There are several different Noonan genes. One gene for Noonan syndrome (NS1) has been mapped to chromosome number 12 and is located in region 12q24.1. More than 50% of cases are due to missense mutations in PTPN11, a gene encoding the nonreceptor protein tyrosine phosphatase SHP-2. Noonan syndrome may be due in such cases to excessive SHP-2 activity. How is Noonan syndrome treated? Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present. Complications can include social difficulties related to physical abnormalities and low self- esteem. Noonan Syndrome At A Glance Noonan syndrome is a characteristic constellation of birth defects. Noonan syndrome includes short stature and webbing of the neck and has therefore been called Turner-like syndrome. However, Noonan syndrome is a distinctive entity that affects both sexes.

23. National Library Of Medicine Includes the alternate names, a summary and a list of major features for noonan syndrome. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Noonan syndrome&field

24. Www.icondata.com/health/pedbase/files/NOONANSY.HTM Birth Defects FoundationBDF has a long relationship with noonan syndrome (NS). BDF’s chief executive, back in 1984, began a parents’ support group for http://www.icondata.com/health/pedbase/files/NOONANSY.HTM

25. Noonan Syndrome Support Group, Inc. The noonan syndrome Support Group has moved to http//noonansyndrome.org. http://www.geocities.com/~noonansyndrome/

The Noonan Syndrome Support Group has moved to http://noonansyndrome.org

26. Noonan Syndrome noonan syndrome. The term appearance. noonan syndrome is a genetic disorder, and is thought to occur in around 11500 people. But http://www.geocities.com/disabilitiesinaction/noonan.html

Noonan Syndrome The term Noonan Syndrome began to be used in 1963 when Dr. Jacqueline Noonan, a pediatric cardiologist, reported nine children with pulmonary stenosis, short stature, and a characteristic facial appearance. Noonan Syndrome is a genetic disorder, and is thought to occur in around 1:1500 people. But as there is no definitive test for NS as yet, diagnosis is made on the basis of certain "features". However since these can be very variable, many of the milder cases may never actually be diagnosed. Facial features include: Hypertelorism (widely spaced eyes) Ptosis (droopy eyelids) Downward slanting eyes Flattened nasal bridge Epicanthal folds (excess skin in the inner corner of the eye) Malar hypoplasia (flattened cheek bones) Low set, anteriorly rotated ears These features are very variable however, and the degree to which they are expressed can vary widely not only from child to child, but also with age. This can add greatly to the difficulties of diagnosis. Heart Defects in Noonan Syndrome include: Pulmonary valve stenosis (PS) Hypertrophic cardiomyopathy (HCM) Atrial septal defect (ASD) Ventral septal defect (VSD) Around 80% of babies born with NS have some sort of heart defect, although many are asymptomatic and the defect is only discovered when a heart murmur is heard.

27. THE MERCK MANUALSECOND HOME EDITION, Noonan Syndrome In Ch. 266 noonan syndrome. Noonan noonan syndrome can be inherited or can develop unpredictably in children whose parents have normal genes. Although http://www.merck.com/mrkshared/mmanual_home2/sec23/ch266/ch266e.jsp

28. Noonan Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders noonan syndrome noonan syndrome. Birth Defects Foundation noonan syndrome History of the Foundation s involvement with Noonan s. http://www.healthcyclopedia.com/genetic-disorders/noonan-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > noonan syndrome Noonan Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "noonan syndrome" Health News: Search millions of published articles for news on Noonan Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Birth Defects Foundation: Noonan Syndrome History of the Foundation's involvement with Noonan's. Printable booklet and newsletter. eMedicine - Noonan Syndrome : Article by Jennifer Ibrahim, MD Thorough summary of history, diagnosis, and treatment. National Library of Medicine Includes the alternate names, a summary and a list of major features for Noonan syndrome.

29. The DRM WebWatcher: Noonan Syndrome This section of The DRM WebWatcher describes the best online resources about noonan syndrome. The DRM WebWatcher. noonan syndrome. Updated 1/2004. http://www.disabilityresources.org/NOONAN.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Noonan Syndrome Updated 1/2004 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. Related topics: Growth Disorders Heart Disorders Rare Disorders Resources in your state (c) 1997-2000 Disability Resources, inc.

30. Noonan, Syndrome : Sites Et Documents Francophones Translate this page Arborescence(s) du thesaurus MeSH contenant le mot-clé Noonan, syndrome noonan syndrome Noonan, syndrome de Par Dr Aymé S (Orphanet - INSERM SC 11). http://www.chu-rouen.fr/ssf/pathol/noonansyndrome.html

Noonan, syndrome Menu général CISMeF Synonyme(s) CISMeF pseudo-turner, syndrome. Synonyme(s) MeSH 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 Noonan, syndrome de [Par Dr Aymé S (Orphanet - INSERM SC 11). Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; signes de la maladie, autres sites internet, types de consultations adaptées, projets de recherche, associations et registres de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 23/10/2003]. mots clés : conseil génétique maladies rares Noonan, syndrome

31. Noonan Syndrome, Cincinnati Children's Hospital Medical Center noonan syndrome features, heart problems and inheritance information from the Heart Encyclopedia by the Heart Center staff at Cincinnati Children s Hospital http://www.cincinnatichildrens.org/health/heart-encyclopedia/disease/syndrome/no

Home Contact Us Site Map Go to Advanced Search ... Turner Syndrome Noonan Syndrome Down Syndrome Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL (VATER) Association ... Contact Us 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. Return to Top 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.

32. GeneReviews: Noonan Syndrome Your browser does not support HTML frames so you must view noonan syndrome in a slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=noonan

33. Noonan Syndrome noonan syndrome. Who to Contact Site Index. noonan syndrome. noonan syndrome (NS) is an autosomal dominant condition characterized http://www.ggc.org/Diagnostics/Molecular/noonan.htm

Noonan Syndrome Who to Contact Site Index Noonan Syndrome Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, webbing of the neck, pectus excavatum/carinatum, cryptorchidism, characteristic facies, and cardiac defects including pulmonic stenosis and hypertrophic cardiomyopathy. It has recently been reported that approximately 50% of NS cases may be due to mutations in the PTPN11 gene that encodes the non-receptor protein tyrosine phosphatase SHP-2. We currently offer genomic sequencing for exons 2, 3, 4, 7, 8, 13. Testing these exons will identify greater than 95% of the mutations identified in PTPN11 in patients with Noonan Syndrome. Sequential testing is available. Analysis of exons 3, 8, and 13 will detect approximately 80% of PTPN11 mutations. Sequencing exons 2, 4, and 7 will detect an additional 15%. Specimen requirements : 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer TM tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer

34. OMIM - NOONAN SYNDROME 1; NS1 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163950

35. Noonan Syndrome noonan syndrome. Individuals with noonan syndrome have a particular set of physical malformations, some of which are similar to Turner syndrome. http://rarediseases.about.com/cs/noonansyndrome/a/031104.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Rare Diseases M - N Rare Diseases: N ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on Noonan syndrome Elsewhere on the Web Noonan Syndrome Support Group Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... Dystonia and Botox Injections Noonan Syndrome From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Syndrome not fully understood Individuals with Noonan syndrome have a particular set of physical malformations, some of which are similar to

36. Noonan Syndrome noonan syndrome may be difficult to recognize, especially in adults, because the facial features change with aging . Rare / Orphan Diseases noonan syndrome. http://rarediseases.about.com/b/a/071532.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Noonan Syndrome Rare/Orphan Diseases Blog Main March 11, 2004 Noonan Syndrome This syndrome includes unusual facial features, congenital heart disease, short stature, and chest deformity. Noonan syndrome may be difficult to recognize, especially in adults, because the facial features change with aging. Email a Friend Display Latest Headlines Read Archives Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... User Agreement

37. AllRefer Health - Noonan Syndrome (Turner-Like Syndrome Of Males) noonan syndrome (TurnerLike Syndrome of Males) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs http://health.allrefer.com/health/noonan-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Noonan Syndrome Noonan Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Turner-Like Syndrome of Males Definition Noonan syndrome is a genetic disorder 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. Pectus Excavatum 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, that is, presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called , was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome.

38. AllRefer Health - Noonan Syndrome Treatment (Turner-Like Syndrome Of Males) noonan syndrome (TurnerLike Syndrome of Males) information center covers Treatment. Treatment of noonan syndrome. noonan syndrome. http://health.allrefer.com/health/noonan-syndrome-treatment.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Noonan Syndrome : Treatment of Noonan Syndrome Noonan Syndrome Definition Prevention Treatment Expectations or Prognosis Complications Support Groups Calling Your Health Care Provider ... Go To Main Page Alternate Names : Turner-Like Syndrome of Males Noonan Syndrome Treatment There is no single treatment for Noonan syndrome. Treatment focuses on the problems that occur. Growth hormone has been used successfully in Noonan syndrome to treat short stature. Previous Top Next Jump to another section Definition Noonan Syndrome Prevention Noonan Syndrome Treatment Noonan Syndrome Prognosis Noonan Syndrome Complications Noonan Syndrome Support Groups Calling Your Health Care Provider Topics that might be of interest to you Atrial Septal Defect Heart Disease Mental Retardation Ptosis ... ECG Other Topics Hearing Loss Penis Short Stature Testes Review Date : 8/6/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

39. Saldino Noonan Syndrome Saldino noonan syndrome,. Print this article, (also called short rib polydactyly Saldino noonan syndrome, Fig. 1. Still born baby with http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/SALDINO NOONAN

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Saldino noonan syndrome, (also called short rib polydactyly syndrome , type I), (R.M. Saldino, 20th century, American radiologist; Anne Noonan, 20th century, American paediatrician), a lethal form of dysplasia with autosomal recessive inheritance and seen more often in females. Clinically, it has the following features: dolichocephaly, micrognathia, short narrow thorax due to the short ribs, severe micromelia, brachydactyly and both postaxial and preaxial polydactyly. There are associated cardiac, renal, gastrointestinal and and genitourinary anomalies. The lungs are hypoplastic. Radiology: there is dolichocephaly, poor skull vault mineralization, mandibular and scapular hypoplasia, short ribs, polydactyly and short tubular bones with ragged ends, and pointed femora and absent fibulae ( Fig.1 HC The Encyclopaedia of Medical Imaging Volume VII Saldino noonan syndrome, Fig. 1 Still born baby with (a) AP and (b) lateral images shows the short horizontal ribs, small pelvis with a wide triradiate cartilage and spurring at the sacrosciatic notch, short tubular bones with ragged metaphyses. The poorly formed fingers are visible on the lateral view.

40. Dermatlas: Online Dermatology Image Library Dermatology Image,Noonan Syndrome,sc Dermatlas Dermatology Images scar,lymphedema,hypertelorism,dermatology image,noonan syndrome images. Match ALL words Match ANY word. Dermatology Images, http://dermatlas.med.jhmi.edu/derm/result.cfm?Diagnosis=-1691121070

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