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Noonan Syndrome: more detail

Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling (Monographs in Human Genetics)

Noonan Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-04-26

Noonan's Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-12-30

NOONAN-SYNDROME: CHARACTERISTICS, DEVELOPMENT, AND INTERVENTION by STEPHEN VON TETZCHNER, 1998

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)

Noonan syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Deepti, MS, CGC Babu, 2005

Noonan Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18

" Another Noonan Connection " by WANDA ROBINSON, 2008

lists with details

The Noonan Syndrome Support Group Website
Information about this organization as well the disease itself. Offers news, events, a survey, a newslett Category Health Conditions and Diseases noonan syndrome Wanda Robinson, wanda@noonansyndrome.org The noonan syndrome Support Group, Inc.,PO.Box 145 Upperco, MD 21155, USA 1888-686-2224 within the USA or 410-374
http://www.noonansyndrome.org/

Extractions: Together, we can solve this puzzle. Enter Hello we are the parents of Gaelle (ASD, single ventricle, situs solitus, TGA, atresia, coarctation of the aorta). We live in Paris (France) and we are very so happy and honored to send you this award for your website because it was a pleasure visiting your wonderful site,and your story. Please link it back to http://perso.wanadoo.fr/association.solidarite.gaelle/ . For me this award is a bearer of peace and happiness, because I think that your Web site is the reflection of your soul. Have a nice day, Christian DAUMAL Wanda Robinson,
Noonan Syndrome
Story of 6year-old Becky, with factsheet and resources.Category Health Conditions and Diseases noonan syndromenoonan syndrome. Becky, now 6! Becky, aged 4. My interest in NoonanSyndrome (NS) began in 1995 when my daughter Rebecca was born.
http://www.heather.flyer.co.uk/noonan.htm

Extractions: Noonan Syndrome Becky, now 6! Becky, aged 4 My interest in Noonan Syndrome (NS) began in 1995 when my daughter Rebecca was born. She had feeding problems, was sick nearly every time she was fed, and ended up being labelled a 'failure to thrive' baby. Investigations into this failure to thrive revealed that she also had congenital heart defects (pulmonary stenosis and hypertrophic cardiomyopathy), and a diagnosis of Noonan Syndrome was made. At the time we were given no information at all about NS, so I made it my aim to find out as much as I could about the condition - and much of what I learned is accessible via these pages. I also volunteered to become the UK Representative for The Noonan Syndrome Support Group , and you can get lots more information on NS from their website, The Birth Defects Foundation website, or by following the links below. Thankfully Becky is now a very happy and healthy little girl, her heart defects have improved dramatically, and she is doing everything you would expect a child of her age to do - so although a diagnosis of NS can be very daunting at first, there can be happy endings!!!
EMedicine - Noonan Syndrome : Article By Jennifer Ibrahim, MD
Thorough summary of history, diagnosis, and treatment.
http://www.emedicine.com/PED/topic1616.htm

Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: October 30, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: hypertelorism, down-slanting eyes, webbed neck, congenital heart disease AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Jennifer Ibrahim, MD , Fellow, Department of Pediatrics, Division of Genetics, Children's Hospital of New Jersey and Mount Sinai School of Medicine Coauthor(s): 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 Editor(s): 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
Noonan Syndrome
National organizations information on genetic conditions or birth defects noonan syndrome Fact Sheet noonan syndrome. The noonan syndrome Support Group, Inc., (TNSSG, Inc.)
http://www.kumc.edu/gec/support/noonan.html
Birth Defects Foundation
History of the Foundation's involvement with Noonan's. Printable booklet and newsletter.
http://www.birthdefects.co.uk/bdf_may01/pages/services/noonan_1.htm

Extractions: Each year BDF runs an annual get together for families and professionals interested in the condition, where research and news is reviewed and disseminated. Families get to meet and relationships and support networks are established. "Through BDF, NS has gone from being the unknown condition to become one of the better recognised disorders. Not only has the research on NS benefited children and families but because it is a complex genetic disorder, information gained has also impacted on the knowledge of other syndromes, congenital heart disease, endocrine matters etc". BDF publishes a booklet on the condition that is freely available and is based upon its pioneering research.
The Contact A Family Directory - NOONAN SYNDROME
A description of noonan syndrome, its inheritance patterns and pre-natal diagnosing.Category Health Conditions and Diseases noonan syndromeprinter friendly, noonan syndrome, Prenatal diagnosis It is occasionallypossible to diagnose noonan syndrome with ultrasound scanning.
http://www.cafamily.org.uk/Direct/n33.html

Extractions: printer friendly NOONAN SYNDROME home more about us in your area conditions information ... how you can help search this site Noonan Syndrome is a genetic condition which is very variable in degree and so mildly affected individuals may remain undiagnosed. Additionally the characteristics, especially facial, appear to change as the individual ages. Characteristics include: heart defects , the commonest being pulmonary valve stenosis; atrial septal defects; ventricular septal defects and hypertrophic cardiomyopathy: facial features are ptosis (drooping eyelids); large downward slanting eyes; hypertelorism (widely spaced eyes), flat nasal bridge; short neck with or without excess skin folds; characteristic low hairline on neck; low set ears with frontal lobe rotations: short stature in correct proportion. Additional features may include: excess oedema at birth and slow weight gain; feeding difficulties with poor sucking and weaning and frequent and/or forceful vomiting in babies which may be assessed as failure to thrive; mild hearing loss; dental delay; elevated or depressed sternum; hypotonia ; undescended testes; mild developmental delay in a minority of children; speech and behaviour problems.
Noonan Syndrome - By Michelle Ellis
Account of her life with the disorder.
http://www.guch.demon.co.uk/lv0005.htm
NORD - National Organization For Rare Disorders, Inc.
Offers the synonyms, a general discussion and further resources.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Noonan Syndro
Noonan Syndrome
noonan syndrome Support Group of Arizona Daniel at 5 years old noonan syndrome is a genetic condition which has an incidence rate of 1/1 0001/2 500 live births. It can occur in both males and females.
http://www.vibrationdata.com/noonan.htm

Extractions: Noonan syndrome is similar to Turner syndrome. Characteristics may include: congenital heart disease, short stature, distinctive facial features, dental problems, bruising, bleeding, and learning difficulties. The facial features may include: low-set or rotated ears, and Hypertelorism (widely spaced eyes). Another characteristic is "Pectus excavatum," which is a concave shape in the chest.
Noonan Syndrome
noonan syndrome. noonan syndrome (NS), sometimes known as UllrichTurner syndrome, has an estimated incidence of 1/2500
http://home.coqui.net/myrna/noon.htm

Extractions: Noonan syndrome (NS), sometimes known as Ullrich-Turner syndrome, has an estimated incidence of 1/2500 to 1/1000 and may be the second most common syndrome with associated congenital heart disease (which affects < 80% of NS patients) after Downs syndrome. Characteristic facies (including severe ptosis), pulmonary valve stenosis, and short stature ( <10th percentile) are features of this syndrome, as are undescended testis among males, coagulation abnormalities (with history of troublesome postoperative bleeding or easy bruising found in 65% of patients), and pectus carinatum/escavatum. Additionally, 20% of patients have hypertrophic cardiomyopathy. An interesting component of the syndrome is that birth weight is usually within the normal range, but subsequent growth (height and weight) and sexual development may be significantly retarded. Because the head circumference remains within normal range, the patient may appear to be macrocepahlic. Previously, an association was suggested between NS and mental deficits, but now is reportedly extremely rare. Consequently, the presence of mental retardation and NS signifies the need for careful chromosomal studies. Although NS is often an autosomal dominant disorder, the gene locus has not yet been mapped no the gene product identified. Therefore, the diagnosis of Noonan syndrome must be made on its clinical features. NS should be part of the differential diagnosis for children with short stature. The bleeding disorder, although undiagnosable as to specific etiology, might be a clue to the syndrome.
Welcome
TNSSG). noonan syndrome is a condition which affects both children and adults.It What is the noonan syndrome Support Group, Inc.? The Group
http://www.noonansyndrome.org/home.html

Extractions: Home Site Map Search Contact Us ... Translate? Welcome to the Noonan Support Group (TNSSG). Noonan Syndrome is a condition which affects both children and adults. It is often associated with congenital heart disease and short stature. It is believed that one in 1000 children worldwide are born with this condition. Each day a child is born with the condition. It's possible that 1:100 people carry the gene yet are virtually unaffected and undiagnosed. Once affected, their is a 50/50 chance of passing the gene on to one or more of their children. It can also occur sporadically, presumably due to a new mutation. 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. This 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. Noonan Syndrome is one of the most common of those conditions associated with congenital heart abnormality. Still its exact cause remains unknown.....
Noonan Syndrome
noonan syndrome Fact Sheet by I.B.I.S.
http://www.ibis-birthdefects.org/start/noonan.htm

Extractions: 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 ..
Martha Kate Downey - Home Page
Support and information about Aspergers Syndrome, noonan syndrome, autism, and other disorders.
http://mkdowney.com
NOONAN SYNDROME
A definition of Noonam syndrome, the epidemiology, pathogenesis, clinical features, investigations Category Health Conditions and Diseases noonan syndromePediatric Database (PEDBASE); Discipline GEN; Last Updated 8/19/93 noonan syndrome.DEFINITION INTERNET LINKS noonan syndrome Information and Resources.
http://www.icondata.com/health/pedbase/files/NOONANSY.HTM

Extractions: Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 8/19/93 A disorder of unknown etiology with phenotypic features similar to those of Turner Syndrome. risk factors: M = F large head with turricephaly hypertelorism with prominent eyes and level palpebral fissures thick-hooded eyelids or ptosis nose with depressed root, wide base, and bulbous tip
Noonan Syndrome
noonan syndrome Who to Contact Where to Go to Chat with Others Learn More About It.
http://www.ability.org.uk/Noonan_Syndrome.html

Extractions: "see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Noonan Syndrome The Noonan Syndrome Support Group Website Noonan Syndrome - Who to Contact Where to Go to Chat with Others Learn More About It. noonan syndrome OutLook Magazine's Disability Web: Resources: Mailing Lists: Directory: NOONAN-SYNDROME List: Noonan's Syndrome Noonan syndrome and children ... Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments
Noonan Syndrome Support Group, Inc.
The noonan syndrome Support Group has moved to http//noonansyndrome.org.
http://www.geocities.com/~noonansyndrome/
Noonan Syndrome
noonan syndrome. None of the contents of this page are meant as medical advice. Themost important features of noonan syndrome are A congenital heart defect.
http://www.geocities.com/Heartland/Pointe/4891/ns.html

Extractions: None of the contents of this page are meant as medical advice. If you have questions about Noonan syndrome concerning yourself or family members, you should ask the advice of your doctor. This information was provided with courtesy of the NVGG, Netherlands This page in Dutch Noonan Syndrome WebRing Previous ... Children's Health Information Network: Listservs Noonan Syndrome is a congenital disorder, of which the most important characteristics are: facial features, short stature and a congenital heart defect. It occurs in roughly 1 on 2000 births. The name was given by a pediatric cardiologist, Dr. Jacqueline Noonan. She recognised in several children with stenosis of the pulmonary valve, the same facial characteristics and short stature. She first described the syndrome in 1963. To this day there is no blood test for Noonan Syndrome, or any other conclusive test. The diagnose depends on recognition of the symptoms by a knowledgeable doctor. What are the characteristics of NS?
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
Genomelink Database
Links to information and resources for noonan syndrome.
http://www.genomelink.org/noonan
MEDLINEplus Medical Encyclopedia: Noonan Syndrome
noonan syndrome. noonan syndrome can be inherited in an autosomal dominantmanner. It affects at least 1 in 2,500 children. The fact
http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm

Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Pectus excavatum Alternative names Return to top Turner-like syndrome of males Definition Return to top 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. Causes, incidence, and risk factors Return to top 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

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