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         Noonan Syndrome:     more detail
  1. Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling (Monographs in Human Genetics)
  2. Noonan Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-04-26
  3. Noonan's Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-12-30
  4. NOONAN-SYNDROME: CHARACTERISTICS, DEVELOPMENT, AND INTERVENTION by STEPHEN VON TETZCHNER, 1998
  5. Noonan-Syndrome:: A New Challenge in Growth Hormone Therapy: Expert Workshop, November 26-28, 2008, Copenhagen, Denmark (Hormone Research from Developmental Endocrinology to Clinical Research)
  6. Noonan syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Deepti, MS, CGC Babu, 2005
  7. Noonan Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
  8. " Another Noonan Connection " by WANDA ROBINSON, 2008

41. Noonan Syndrome
Article describes noonan syndrome, its symptoms, diagnosis, and treatment.
http://rarediseases.about.com/cs/noonansyndrome/a/031104.htm
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42. Noonan Syndrome
Links to articles, information, and resources for noonan syndrome.
http://rarediseases.about.com/cs/noonansyndrome/
zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb);
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Guide picks Noonan syndrome includes unusual facial features and several physical malformations.
Noonan Syndrome

Article describes Noonan syndrome, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. Noonan Syndrome Support Group
Site offers information, research news, newsletter, support, photo gallery of children and adults with Noonan syndrome, and books and pamphlets. Birth Defects Foundation: Noonan Syndrome
Online booklet provides comprehensive information about Noonan syndrome. Requires Adobe Acrobat reader to view. Contact a Family (U.K.): Noonan Syndrome
Definition of the disorder, and links to resources and support. NORD: Noonan Syndrome
Definition of the disorder, from the National Organization for Rare Disorders (U.S.).

43. THE MERCK MANUAL--SECOND HOME EDITION, Noonan Syndrome In Ch. 266, Chromosomal A
noonan syndrome is a genetic defect that causes a number of physical noonan syndrome can be inherited or can develop unpredictably in children whose
http://www.merck.com/mmhe/sec23/ch266/ch266e.html
var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Chromosomal and Genetic Abnormalities Topics Introduction Down Syndrome Fragile X Syndrome Klinefelter Syndrome ... Long QT Syndrome Noonan Syndrome Triple X Syndrome Turner Syndrome XYY Syndrome Noonan Syndrome Buy The Book Print This Topic Email This Topic Noonan syndrome is a genetic defect that causes a number of physical abnormalities, usually including short stature, heart defects, and an abnormal appearance. Noonan syndrome can be inherited or can develop unpredictably in children whose parents have normal genes. Although children with the syndrome have normal chromosomal structure, they have many characteristics typical of Turner syndrome. In the past, Noonan syndrome was called "male Turner syndrome." Boys or girls can be affected. The gene responsible for Noonan syndrome has been localized to chromosome 12.

44. TheFetus.net - Noonan Syndromes -Philippe Jeanty, MD, PhD & Sandra R Silva, MD
199905-27-23 noonan syndrome © Jeanty www.thefetus.net Prenatal features of noonan syndrome. Prenat Diagn 1999 Jul;19(7)642-7. Other items by Jeanty
http://www.thefetus.net/page.php?id=431

45. 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,
http://health.allrefer.com/health/noonan-syndrome-info.html

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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.

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

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Web health.allrefer.com You are here : AllRefer.com Health Noonan Syndrome : Treatment of Noonan Syndrome
Noonan Syndrome
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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.
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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.

47. Welcome To NHS Direct Online
noonan syndrome is a genetic disorder. It affects between 1 in 1000 to 1 in 2500 noonan syndrome takes its name from Dr. Jacqueline Noonan, a Paediatric
http://www.nhsdirect.nhs.uk/en.asp?TopicID=767

48. Welcome To NHS Direct Online
noonan syndrome can have the associated medical problems. After birth, growth in height and Undescended testicles in 60% of boys with noonan syndrome.
http://www.nhsdirect.nhs.uk/en.asp?TopicID=767&AreaID=5099&LinkID=4174

49. Noonan Syndrome Medical Information
noonan syndrome Information from Drugs.com. noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body.
http://www.drugs.com/enc/noonan_syndrome.html

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Noonan syndrome
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.
Causes 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, the presumed 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

50. BHF Any Questions? - Noonan Syndrome
The British Heart Foundation (BHF) is the leading national charity fighting heart and circulatory disease the UK s biggest killer. The BHF funds research,
http://www.bhf.org.uk/questions/index.asp?secondlevel=1160&thirdlevel=1288

51. The Noonan Syndrome Support Group, Inc.
Welcome to our noonan syndrome website. My name is Sue Walker, My son was born with noonan syndrome; however, he wasn t diagnosed until he was 14 years
http://www.nsvirginia.org/
Commonwealth of Virginia Page
Welcome to our Noonan Syndrome website. My name is Sue Walker, and this page has been designed as a site for the Virginia members of The Noonan Syndrome Support Group (TNSSG). In the future I hope to post Virginia news as well as announcements of upcoming Noonan-related events, both in Virginia and elsewhere. My son was born with Noonan Syndrome; however, he wasn't diagnosed until he was 14 years old. Because he is mildly affected, his many and varied physical and medical characteristics were not recognized as Noonan Syndrome until he was referred to an endocrinologist at age 14 due to delayed puberty. The endocrinologist made the diagnosis of Noonan Syndrome, but for the next five years we were almost as much in the dark as before the diagnosis, because we were given only limited information. In 1998, during a medical crisis, I began to search the Internet for resources and information, and I discovered The Noonan Syndrome Support Group, Inc. (TNSSG), an Internet-based, international support group for those whose lives are touched by Noonan Syndrome. Since that time, TNSSG has provided support, information, resources, and a new circle of friends and "family." The group has been a light in our darkest days, a safety net when we've been at the end of our rope, and a source of comfort and inspiration as we have come to know the members and hear the stories of the courageous individuals who live with Noonan Syndrome in a world where the most-often-heard comment is "...I've never heard it it!"

52. Indian Pediatrics - Editorial
These features are typical of those seen in noonan syndrome. Fig.1. A 14year-old boy with noonan syndrome and absence of breast development. Fig.2.
http://www.indianpediatrics.net/may2003/may-431-432.htm
Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2003; 40:431-432 Noonan Syndrome Figs 1 ). Boy had features of hypogonadism. Their mental development was normal and had satisfactory scholastic performance. Other systems were normal. These features are typical of those seen in Noonan syndrome. Fig.1. A 14-year-old boy with Noonan syndrome and absence of breast development. Fig.2. A 16-year-old Girl with Noonan syndrome and absence of breast development. M.L. Kulkarni,
Dasari Ramesh

Department of Pediatrics,
J.J.M. Medical College,
Davangere, India.
Home Past Issue About IP About IAP ... Subscription

53. Noonan Syndrome
noonan syndrome is a genetic condition that often includes heart abnormalities and characteristic facial features. About onethird of affected children have
http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Noonan_syndrome?O

54. The DRM WebWatcher: Noonan Syndrome
This section of The DRM WebWatcher describes the best online resources about noonan syndrome.
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
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(c) 1997-2005 Disability Resources, inc.

55. Noonan Syndrome - Wikipedia, The Free Encyclopedia
noonan syndrome (NS) is a relatively common congenital genetic condition which In most of the families with multiple affected members, noonan syndrome
http://en.wikipedia.org/wiki/Noonan_syndrome
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Noonan syndrome
From Wikipedia, the free encyclopedia.
Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood cloting, and a characteristic configuration of facial features. NS is one of the most common conditions associated with congenital heart anomalies, especially those of the right heart. The syndrome is named after Dr Jacqueline Noonan, a paediatric cardiologist based in Kentucky. It is believed that 1 in 1,000 to 1 in 2,500 children worldwide are born with Noonan syndrome. It is one of the most common genetic syndromes associated with congenital heart malformations, similar in frequency to Down syndrome . However, the body features are much less obviously abnormal, and many if not most affected persons go undiagnosed.
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Cause
Recurrence in siblings and apparent transmission from parent to child has long suggested a genetic defect with autosomal dominant inheritance and variable expression. A clearly affected person had up to a 50% chance of transmitting it to a child. The fact that affected parents cannot be identified for many children with Noonan syndrome suggests that (1) a parent could carry the gene without being affected, (2) that manifestations were variably expressed and could be so subtle as to go unrecognized, (3) that a high proportion of cases represented new, sporadic

56. 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 or VATER Association ... Contact Us
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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.

57. Noonan Syndrome
Hunter Syndrome MCAD Methylation Studies Myotonic Dystrophy noonan syndrome Rett Syndrome SaethreChotzen Sanfilippo Syndrome Smith-Lemli-Opitz
http://www.ggc.org/Diagnostics/Molecular/noonan.htm
Noonan Syndrome
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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

58. Special Child: Disorder Zone Archives - Noonan Syndrome
noonan syndrome (NS) is a genetic disorder characterized by distinct For more information on noonan syndrome, please see the following references
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:

59. Noonan Syndrome
This booklet is aimed at individuals with noonan syndrome, their parents, Information in the booklet covers features of noonan syndrome, diagnosis,
http://omni.ac.uk/browse/mesh/D009634.html
low graphics
Noonan Syndrome
broader: Connective Tissue Diseases other: Cartilage Diseases Cellulitis 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. Patient Education Handout [Publication Type] Noonan Syndrome Abnormalities
Last modified: 09 Sep 2005

60. Noonan Syndrome
noonan syndrome Updated May 27, 2005. noonan syndrome Birth Defects Foundation PDF File; noonan syndrome University of California at Davis Children s
http://www.noah-health.org/en/genetic/conditions/noonan.html
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