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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
  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

1. 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, The noonan syndrome Support Group, Inc.,PO.Box 145 Upperco, MD 21155, USA 1888-686-2224 within the USA or 410-374
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 . 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,

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

2. Noonan Syndrome
Story of 6year-old Becky, with factsheet and resources.Category Health Conditions and Diseases noonan syndrome......noonan syndrome. Becky, now 6! Becky, aged 4. My interest in NoonanSyndrome (NS) began in 1995 when my daughter Rebecca was born.
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!!!

3. EMedicine - Noonan Syndrome : Article By Jennifer Ibrahim, MD
Thorough summary of history, diagnosis, and treatment.
(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

4. 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.)
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: or (Wanda Robinson) Web site: Listserv: send e-mail to: 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:

Genetic Societies
Clinical Resources ... Search
Genetics Education Center
Debra Collins, M.S. CGC

5. Birth Defects Foundation
History of the Foundation's involvement with Noonan's. Printable booklet and newsletter.
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.
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.
The Noonan Syndrome booklet is available from the Publications page in Adobe Acrobat PDF format.

6. 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 syndrome......printer friendly, noonan syndrome, Prenatal diagnosis It is occasionallypossible to diagnose noonan syndrome with ultrasound scanning.
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.

7. Noonan Syndrome - By Michelle Ellis
Account of her life with the disorder.

8. NORD - National Organization For Rare Disorders, Inc.
Offers the synonyms, a general discussion and further resources. Syndro

9. 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.
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:

10. Noonan Syndrome
noonan syndrome. noonan syndrome (NS), sometimes known as UllrichTurner syndrome, has an estimated incidence of 1/2500
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.

11. Welcome
TNSSG). noonan syndrome is a condition which affects both children and adults.It What is the noonan syndrome Support Group, Inc.? The Group
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.....

12. Noonan Syndrome
noonan syndrome Fact Sheet by I.B.I.S.
Tips for printing Noonan Syndrome About I.B.I.S.

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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 ...

13. Martha Kate Downey - Home Page
Support and information about Aspergers Syndrome, noonan syndrome, autism, and other disorders.
Martha Kate Downey author, speaker, educator ... but mainly just Mom What's up now ?
  • Remarkable husband, talented son, and flavorful daughter
  • Please participate in the Burkhart Project in Autism Education through Texas Tech University School of Education and School of Medicine. Complete a Needs Assessment then e-mail me upon completion.
  • Continuing study and providing education about Noonan's Syndrome, autism and other disorders.
  • Check out the "Speaking Engagements" page on this website. I'd love to meet you all!
    BTW, I'll be presenting at the 2003 National Conference of the Autism Society of America Meeting in Pittsburgh, Pennsylvania, July 16-20, 2003. Drop by for a chat ... or at least send up a prayer ;-)
  • Check out "It worked for us, but ymmv" button (It's the button for TIPS on parenting, etc). New article by Stephen Shore added. Drop me a line, I'd love to include your tips as well! This is the place to learn and share from one another.
  • What Do I Do About Hitting?! A book about children's frustrations, anger and rage still in progress.

A definition of Noonam syndrome, the epidemiology, pathogenesis, clinical features, investigations Category Health Conditions and Diseases noonan syndrome......Pediatric Database (PEDBASE); Discipline GEN; Last Updated 8/19/93 noonan syndrome.DEFINITION INTERNET LINKS noonan syndrome Information and Resources.
  • Pediatric Database (PEDBASE)
  • Discipline: GEN
  • Last Updated: 8/19/93
    A disorder of unknown etiology with phenotypic features similar to those of Turner Syndrome.
    • incidence: 1/1,000-1/2,500 live births
    • age of onset:
      • newborn
    • risk factors:
      • familial - autosomal dominant with variable expression (sporadic cases thought to represent de novo mutations)
      • chrom.#: ?
      • gene: ?
    • M = F
    1. Etiology
    • unknown, but may be similar to that hypothesized for Turner Syndrome
    • in support of this hypothesis, cystic hygromas and edema have been detected prenatally in suspected cases
    1. Craniofacial Dysmorphisms
    1. Newborn
    • hypertelorism with down-slanting palpebral fissures (95%)
    • deeply-grooved philtrum (95%)
    • low-set posteriorly-rotated ears with thick helix (90%)
    • low posterior hairline (55%)
    • high-arched palate (45%)
    • micrognathia (25%)
    2. Infancy
    • 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
  • 15. Noonan Syndrome
    noonan syndrome Who to Contact Where to Go to Chat with Others Learn More About It.
    "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

    16. Noonan Syndrome Support Group, Inc.
    The noonan syndrome Support Group has moved to http//
    The Noonan Syndrome Support Group has moved to

    17. 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.
    Noonan Syndrome
    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
    What is NS?
    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?

    18. National Library Of Medicine
    Includes the alternate names, a summary and a list of major features for noonan syndrome. syndrome&field

    19. Genomelink Database
    Links to information and resources for noonan syndrome.

    20. 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
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    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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