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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

21. Noonan Syndrome
    Tips for printing. noonan syndrome Special Resources SOS Ask experts or consultantsfor information noonan syndrome. A Selection of Internet Sites.  
    http://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 ..

22. Noonan Syndrome
    noonan syndrome up. noonan syndrome booklet, Information in the booklet covers featuresof noonan syndrome, diagnosis, occurrence, genetics, and management.  
    http://omni.ac.uk/browse/mesh/detail/C0028326L0028326.html
    
    Extractions: 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. Abnormalities Noonan Syndrome Patient Education Handout [Publication Type]

23. Noonan Syndrome Booklet
    Back to whats new page. noonan syndrome booklet, Information in the booklet coversfeatures of noonan syndrome, diagnosis, occurence, genetics, and management.  
    http://omni.ac.uk/whatsnew/detail/3004694.html
    
    Extractions: Back to whats new page. 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, occurence, 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 format requiring the Adobe Acrobat Reader. Noonan Syndrome Patient Education Abnormalities

24. Noonan Syndrome
    Library M N. noonan syndrome. Who to Contact. The noonan syndromeSupport Group, Inc. PO Box 145 Upperco, MD. 21155 USA 888-686-2224  
    http://www.familyvillage.wisc.edu/lib_noon.htm

25. HONselect - Noonan Syndrome
    English noonan syndrome, Turner's Syndrome, Male - Male Turner's Syndrome -Syndrome, Male Turner's - Syndrome, Noonan - Turner Syndrome, Male - Turners  
    http://www.hon.ch/HONselect/RareDiseases/C05.660.207.690.html

26. Special Child: Disorder Zone Archives - Noonan Syndrome
    noonan syndrome noonan syndrome (NS) is a genetic disorder characterized by distinctfacial characteristics, short stature, and congenital cardiac defects.  
    http://www.specialchild.com/archives/dz-033.html
    
    Extractions: 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:

27. WebRing: Hub
    Similar pages noonan syndromenoonan syndrome The noonan syndrome Support Group Website. noonan syndrome Whoto Contact Where to Go to Chat with Others Learn More About It. noonan syndrome.  
    http://www.webring.org/cgi-bin/webring?home&ring=noonan

28. Noonan Syndrome, Cincinnati Childrens Hospital Medical Center
    noonan syndrome features, heart problems and inheritance information from the HeartEncyclopedia by the Heart Center staff at Cincinnati Children's Hospital  
    http://www.cincinnatichildrens.org/Health_Topics/heart-encyclopedia/disease/synd
    
    Extractions: Heart Center Encyclopedia Introduction Cardiac Anomalies / Congenital Heart Defects Heart Diseases ... Turner Syndrome Noonan Syndrome Down Syndrome Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL (VATER) Association ... Glossary 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. 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.

29. Noonan, Syndrome : Sites Et Documents Francophones
    Translate this page Synonyme(s) syndrome noonan. Arborescence(s) du thesaurus MeSHcontenant le mot-clé Noonan, syndrome noonan syndrome  
    http://www.chu-rouen.fr/ssf/pathol/noonansyndrome.html

30. The DRM WebWatcher: Noonan Syndrome
    This section of The DRM WebWatcher describes the best online resources aboutnoonan syndrome. Check these sites for information about noonan syndrome.  
    http://www.disabilityresources.org/NOONAN.html

31. Noonan Syndrome
    noonan syndrome. Synonynms Its after her that this syndrome has been named.noonan syndrome is inherited as an autosomal dominant condition.  
    http://www.manbir-online.com/diseases/noonan.htm
    
    Extractions: Noonan Syndrome Synonynms 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

32. Noonan Syndrome
    HOME noonan syndrome (Female PseudoTurner Syndrome, Male Turner Syndrome,Turner Phenotype with Normal Karyotype). Founder of The  
    http://www.bdid.com/noonan.htm

33. Birth Disorder Information Directory - N
    Nontropical Sprue See Celiac Disease/Sprue. noonan syndrome (Female PseudoTurnerSyndrome, Male Turner Syndrome, Turner Phenotype with Normal Karyotype)  
    http://www.bdid.com/defectn.htm
    
    Extractions: HOME N-Acetylglutamate Synthetase Deficiency N5-Methylhomocysteine Transferase Deficiency NADH-CoQ Reductase Naegeli (Franceschetti Jadassohn) Syndrome Nager Syndrome Naguib Richieri Costa Syndrome Nail-Patella Syndrome (Fong Disease) Najjar Syndrome Nakajo Nishimura Syndrome (Amyotrophy Fat Tissue Anomaly) Nance Horan Syndrome (Cataract-Dental Syndrome; Cataract, X-Linked, with Hutchinsonian Teeth; Mesiodens-Cataract Syndrome) Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia) Nance Sweeny Chondrodysplasia Nanism Nanocephalic Dwarfism Nanophthalmia/Nanophthalmos Autosomal Recessive See Anophthalmia/Anophthalmos, Clinical

34. Noonan Syndrome Support Group, Inc. Information And Resources
    This site has been moved. Please update your bookmarks.  
    http://my.execpc.com/~caac/ns/nsindex.htm

35. Health Information Resource Database: Noonan Syndrome Support Group, Inc.
    noonan syndrome Support Group, Inc. noonan syndrome News, quarterly newsletter; Membershave access to the most recent articles published on noonan syndrome.  
    http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2560

36. Noonan's Syndrome (www.whonamedit.com)
    Noonan's syndrome A complex familial syndrome similar to Turner’s, with the Turnerphenotype, but there is no chromosomal defect and noonan syndrome occurs  
    http://www.whonamedit.com/synd.cfm/1920.html
    
    Extractions: Jacquline A. Noonan and Dorothy Ehmke [American cardiologist/paediatrician] in 1963 defined the syndrome on the basis of clinical and cytogenetic findings in six boys and three girls with valvular pulmonary stenosis, short stature, hypertelorism and skeletal anomalies, and, in boys, retentio testis. In a later publication (1968) Noonan described a total of 19 patients of both sexes with unusual facies, congenital heart defect and other symptoms resembling those of Turner’s syndrome. However, the patients had normal chromosomes. While at Iowa, Noonan, together with Dorothy Ehmke, conducted a clinical investigation, which included 833 children with congenital heart disease who were carefully studied for the presence of additional extra-cardiac anomalies. Nine of these children had a similar characteristic facies and pulmonary stenosis. These patients were reported by Noonan to the Midwest Society of Pediatric Research held in Cincinnati in 1962.

37. Saldino-Noonan Syndrome (www.whonamedit.com)
    Saldinonoonan syndrome A lethal form of neonatal chondrodystrophy which ischaracterised by polydactyly and severe short limb dwarfism. Who named it?  
    http://www.whonamedit.com/synd.cfm/1992.html
    
    Extractions: A lethal form of neonatal chondrodystrophy which is characterised by polydactyly and severe short limb dwarfism. Symptoms are hydropic appearance with a narrow thorax, very short flipperlike limbs, and postaxial polydactyly. Associated abnormalities include brachydactyly, prominent abdomen, multiple cardiovascular defects (mostly transposition of the great vessel), hypoplastic lungs, anal atresia, and genital abnormalities. Inheritance is autosomal recessive. The two patients reported by Saldino and Noonan in 1972 were siblings.

38. Noonan Syndrome From Pediatrics / Genetics And Metabolic Disease
    noonan syndrome noonan syndrome was first recognized as a unique entity in1963 when Noonan and Ehmke described a series of patients with unusual  
    http://author.emedicine.com/PED/topic1616.htm
    
    Extractions: AUTHOR INFORMATION Section 1 of 11 Authored by Jennifer Ibrahim, MD , Fellow, Department of Pediatrics, Division of Genetics, Children's Hospital of New Jersey and Mount Sinai School of Medicine Coauthored by 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 Edited by 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 , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Robert Anthony Saul, MD

39. SupportPath.com: Noonan Syndrome
    noonan syndrome. noonan syndrome is a rare congenital disorder occuring only in males. NoneListed. Clinical Trials Research on noonan syndrome None Listed.  
    http://www.supportpath.com/sl_n/noonan_syndrome.htm
    
    Extractions: Noonan Syndrome is a rare congenital disorder occuring in males and females. It is characterized by short staure, distinctive facial features, and a congenital heart defect (most often Pulmonary Stenosis - narrowing at the pulmonary artery valve). Also called: NS Other topics of interest on SupportPath.com:

40. Noonan Syndrome Is A Condition, Which Affects Both Children And Adults
    noonan syndrome is a condition, which affects both children and adults. Wehave a daughter, now age 19, with suspected noonan syndrome.  
    http://www.mkdowney.com/mkd-noonan.htm
    
    Extractions: Noonan Syndrome is a condition, which affects both children and adults. As with other disorders, it affects the person with the disorder and their family as well. We have found valuable resources for support and information as well as learned that "living with" a disability may always be a challenge, but does not have to incapacitate the person or the family. We have a daughter, now age 19, with suspected Noonan Syndrome. 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. Part of our frustration has been the inability to get positive proof of the syndrome, so we, like many others with "suspected NS", learn to manage her health and psychological care by joining groups who have members with similar defined characteristics and behaviors. We take help from as many resources as possible. Noonan Syndrome 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. In our daughter’s case, it was also found in conjunction with Asperger Syndrome. Asperger Syndrome is within the autism spectrum. There are many characteristics within the spectrum and through experience as a mom and educator/speaker I have found many others with Noonan Syndrome who share some of these same autistic/like characteristics as our daughter. For that reason we stay in contact with those having Asperger syndrome as well as those having NS.

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