1. EMedicine - Noonan Syndrome : Article By Jennifer Ibrahim, MD Background noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a form of Turner syndrome, with which noonan syndrome shares a number of http://www.emedicine.com/PED/topic1616.htm

(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 Noonan Syndrome 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

2. 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

3. The Noonan Syndrome Support Group Website 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/

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, wanda@noonansyndrome.org The Noonan Syndrome Support Group, Inc., P.O.Box 145 Upperco, MD 21155, USA 1-888-686-2224 within the USA or 410-374-5245 (Telephone service is funded by a grant from The Genentech Foundation for Growth and Development info@noonansyndrome.org

4. Welcome The noonan syndrome Support Group, Inc. is committed to the most accurate and current understanding of noonan syndrome. The noonan syndrome Support Group, Inc. http://www.noonansyndrome.org/home.html

Home Site Map Search Contact Us ... The Gallery of Stars WELCOME TO OUR WORLD THE NOONAN SYNDROME SUPPORT GROUP, Inc. Traduzca? Traduisez? Übersetzen Sie? Tradurre? ... Translate? YOU CAN 'TALK' TO PEOPLE WHO ARE MOST AFFECTED BY NOONAN SYNDROME We operate a list service (discussion forum). If you would like to subscribe, and be a part of our family, send an e-mail to listserv@home.ease.lsoft.com with only the following command in the message body: subscribe noonan-syndrome (AOL subscribers also need to type a period "." in the subject line) 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 1 in 1,000 to 1 in 2,500 children worldwide are born with this condition. Each day a child is born with the condition. It's possible that people carry the gene yet are 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.

5. Noonan Syndrome noonan syndrome. Becky, now 6! Becky, aged 4. My interest in noonan syndrome (NS) began in 1995 when my daughter Rebecca was born. http://www.heather.flyer.co.uk/noonan.htm

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!!!

6. Noonan Syndrome noonan syndrome. The noonan syndrome Support Group, Inc send email to listserv@home.ease.lsoft.com with "Subscribe Noonan-Syndrome" noonan syndrome Society. 1278 Pine Ave http://www.kumc.edu/gec/support/noonan.html

Noonan syndrome The Noonan Syndrome Support Group, Inc. , (TNSSG, Inc.) P.O.Box 145 Upperco, MD 21155, USA 1-888-686-2224 within the USA or 410-374-5345 E-mail: info@noonansyndrome.org or wandar@bellatlantic.net (Wanda Robinson) Web site: http://www.noonansyndrome.org Listserv: send e-mail to: listserv@home.ease.lsoft.com with "Subscribe Noonan-Syndrome" Noonan Syndrome Society 1278 Pine Ave San Jose, CA 95125 Phone: (408) 723-5188 Contact: Susan Espinoza Noonan Syndrome Society Unit 5 Brindley Business Park, Chaseside Drive Cannock, Staffs WS11 1GD Tel. / Fax. 01922 415500 Also See: National organizations information on genetic conditions or birth defects Noonan Syndrome Fact Sheet Noonan Syndrome Pamphlet, published with input from Division of Genetics, University of Kentucky, Lexington, fact sheet discusses etiology and clinical features. Copies available from department. To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC

7. Noonan Syndrome noonan syndrome. Synonynms. webbed neck syndrome. male Turner syndrome. female pseudoTurner syndrome after her that this syndrome has been named. noonan syndrome is inherited as an autosomal dominant condition cause the syndrome. A gene for noonan syndrome (NS1) has been mapped 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

8. TheFetus.net - Noonan Syndromes -Philippe Jeanty, MD, PhD & Sandra R Silva, MD Comprehensive guide to prenatal ultrasound. Covers all aspects of sonography in pregnancy and the fetus. 199905-27-23 noonan syndrome © Jeanty www.thefetus.net it is recognized that one of http://www.thefetus.net/page.php?id=431

9. Noonan Syndrome noonan syndrome Support Group of Arizona. Daniel at 5 years old. FACTS. 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 http://www.vibrationdata.com/noonan.htm

Noonan Syndrome Support Group of Arizona Daniel at 5 years old FACTS Noonan syndrome is a genetic condition which has an incidence rate of: 1/1,000-1/2,500 live births. It can occur in both males and females. 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. Children with Noonan syndrome may have some, or all, of the characteristics. All children with Noonan syndrome should see a cardiologist and have an ultrasound examination of the heart chambers and valves. CONTACT Jan and Tom Irvine are forming a Noonan Syndrome Support Group for Arizona. Your participation is welcome. Please call Jan Irvine at 480-752-9975. Or please send an Email via: tomirvine@aol.com

10. NOONAN SYNDROME : Contact A Family - For Families With Disabled Children: Inform A description of noonan syndrome, its inheritance patterns and prenatal diagnosing. http://www.cafamily.org.uk/Direct/n33.html

printer friendly NOONAN SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no 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.

11. The GUCH Patients' Association - Noonan's Syndrome, By Michelle Ellis Account of her life with the disorder. http://www.guch.demon.co.uk/pe0010.htm

Home Personal Experiences Members Stories Noonan's Syndrome By Michelle Ellis I am almost 21 years old and was born in Brussels. I was a prem. baby.. born by caesarean at 33 weeks. I was born with a hole in my heart, mild PS (which I still have), ptosis, strabismus. They didn’t operate on my heart till I was 4 years old when they closed the ASD I had. I also had a series of operations for my squint and ptosis. The early years were very difficult naturally. I apparently was a very stubborn baby that would not eat and would be sick! I was bad with lumpy food as well (?!) Those first few years I was sick quite a lot with ear infections and tonsillitis, bronchitis etc. etc. I was also very short, and low weight was a problem for a short while. I find it hard to concentrate also and was bullied quite a lot. It was 2 years ago now that NS started to become a familiar term to me. I quickly found The Noonan Syndrome Support Group. I receive a great amount of support from this group and am a member of the ListServer. In October last year I attended the conference organised by this group. It was amazing! I met people like me, people who understood me. I shared laughs, tears of compassion and understanding and our hopes and fears for the future. The doctors really wanted to learn what WE had gone through as kids living with this little known disorder to help our kids now and the future. Dr Noonan was there and I talked to her! I never thought I'd be able to meet her, and here I was in the USA talking to THE Dr Noonan, who has tirelessly researched this disorder.

12. Noonan Syndrome noonan syndrome. noonan syndrome (NS), sometimes known as UllrichTurner syndrome, has an estimated be the second most common syndrome with associated congenital heart disease (which http://home.coqui.net/myrna/noon.htm

Noonan Syndrome 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 Down’s 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.

13. Noonan Syndrome noonan syndrome Fact Sheet by I.B.I.S. Pnoonan syndrome Factsheet. Dr. Judith Allanson, M.D Glossary of Medical Terms Phrases Relating to noonan syndrome. The noonan syndrome Support Group http://www.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 ...

14. MedlinePlus Medical Encyclopedia: Noonan Syndrome noonan syndrome. Definition Return to top. noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Noonan syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Pectus excavatum Alternative names Return to top Turner-like syndrome of males Definition Return to top 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, 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, 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.

15. Martha Kate Downey - Publications Support and information about Asperger's Syndrome, noonan syndrome, autism, and other disorders. http://mkdowney.com

Welcome Martha Kate Downey - Books by MK author, speaker, educator ... but mainly just Mom What's up now ? Continuing study and providing education about Autism Spectrum Disorders and Noonan's Syndrome. Remarkable husband, talented son, and flavorful daughter Meanderings of the mind... Enjoy the interactive book-on-cd about autism TAP DANCING in the night Read online or you may Order a copy NEW INFORMATION!!! Learn more about the Quest to Maintain Benefits as a Dependent Child After Marriage. We have just discovered some new information about the Social Security Act that may help those individuals with disabilities who choose to marry. Still have questions, but stay tuned for more information. Notes from Social Security officials March 15 and 22, 2004 including documentation to which they refer when determining child's benefits after marriage. New project! Join us as we read with adult athletes on our Special Olympic team! We're having a great time! We're even going to do a plaY! Check it out by clicking on the button "Come read with me!" on the left of this page. The "OREO" book (If you've ever wanted to crawl in the closet with an OREO...)

16. Medical Encyclopedia: Noonan Syndrome (Print Version) Medical Encyclopedia noonan syndrome. Definition. noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. http://www.nlm.nih.gov/medlineplus/print/ency/article/001656.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Noonan syndrome URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm Alternative 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. 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, 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. 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 no longer used because Noonan syndrome can affect females also.

17. 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

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. NS INTERNATIONALLY BDF is in contact with many small groups and families internationally who come together annually to exchange ideas and share experiences. Contact is welcome with any individual, family or professional concerned or interested in NS. NOONAN SYNDROME BOOKLET The Noonan Syndrome booklet is available from the Publications page in Adobe Acrobat PDF format.

18. Noonan Syndrome 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. http://www.ability.org.uk/Noonan_Syndrome.html

"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

19. Noonan Syndrome / Family Village Library Library M N. noonan syndrome. Who to Contact. The noonan syndrome Support 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 Google 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: info@noonansyndrome.org Web: http://www.noonansyndrome.org/ The Noonan Syndrome Support Group, Inc. is committed to providing support, current information, and understanding to those affected by Noonan syndrome and its associated anomalies. It is also our goal to raise the awareness of, and educate the medical community as to the complex nature of this syndrome and how it affects the lives of those who have it. With the help of our members from around the world we hope to be able to provide further research into the areas of symptoms, diagnosis, treatment and outcomes related to Noonan syndrome. We recognize the importance of linking patients, specialists, and researchers from around the world to improve our understanding of this disease and are committed to helping establish connection across the globe. The Group is intended for people whose lives are touched by Noonan Syndrome, and want to exchange experiences and hopes regarding our children (or us). Associated professionals are also welcome. We offer support, networking and information. We aim to create greater awareness amongst professionals and the public at large. We support research into the many aspects of this complex condition.

20. Your Search: processing requests The noonan syndrome Support Group Website org The noonan syndrome Support Group, Inc., P.O.Box 145 Upperco, MD 21155, USA 1888-686-2224 within http://www.i-une.com/cgi-bin/meta/search.cgi?lang=en&keywords=Noonan Syndrom

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