Noonan Syndrome

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Noonan Syndrome

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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 ...

[*][P] Noonan Syndrome
Emedicine. Jennifer Ibrahim, MD. The Mount Sinai Hospital. Noonan syndrome was first recognized as unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. These patients had previously been thought to have a form of Turner syndrome ... The cardinal features of Noonan syndrome are unusual facies(hipertelorism, downslanting eyes, webbed neck), congenital heart disease(in 50%), short stature and chest deformity. Approximately 25% of individuals with Noonan syndrome are mentally retarded ...

[*][P] Watson syndrome
Neurofibromatosis-Noonan syndrome (NFNS, NF-NS). Neurofibromatosis with Noonan phenotype. Pulmonic stenosis/café-au-lait spots syndrome ... A rare syndrome originally described as comprising pulmonary valvular stenosis, café-au-lait spots, dull intelligence, and short stature. The phenotype has been later expanded to include macrocephaly
and Lisch nodules in the majority of cases, and neurofibromatosis in one-third of the affected persons. Later studies indicate that the characteristics of this condition overlap those of neurofibromatosis and the Noonan syndrome ...

[P] Noonan Syndrome
Pediatric Database. A disorder of unknown etiology with phenotypic features similar to those of Turner syndrome ... 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%) ...

[P] Noonan syndrome
Philippe Jeanty, MD et al. Definition: Jacqueline A. Noonan described in 1968, 19 cases of a syndrome very similar to the disorder described by Turner. Among her patients 17 had pulmonary stenosis and 2 had patent ductus arteriosus (12 males and 7 were females). Other anomalies include lymphedema, pterygium colli, deformity of the sternum with precocious closure of sutures resulting in a pectus carinatum superiorly and a pectus excavatum inferiorly, coarctation of the aorta, cryptorchidism and thrombocytopenia. As one realizes, aside from this syndrome occurring in both genders, there is a large phenotypic overlap with Turner syndrome ...

[P] Aspects of Noonan Syndrome
John M. Graham, Jr., M.D., Sc.D.The Medical and Psicho Educational Aspects of Noonan Syndrome ... The Noonan syndrome was first noted in 1963 by Noonan and Ehmke when these authors reported on 9 children who had congenital heart anomalies (valvular pulmonic stenosis) and a recognizable pattern of altered physical features ...

[P] Noonan Syndrome Factsheet
Dr. Judith Allanson, M.D. Clinical Genetics. This pamphlet is intended to give the patient and his / her family an overview of Noonan Syndrome. Introduction ... History ... Features associated with the eyes ... Features associated with the head and neck ...

Possible Anomolies
This page lists anomolies that are often noted in persons with Noonan Syndrome. This does not mean that all anomolies are seen in all persons with the disorder. Some people with Noonan Syndrome may have only a few of these anomolies and some may have many. There are also differences in terms of the severity of each of these anomolies ...

Glossary of Medical Terms & Phrases Relating to Noonan Syndrome
The Noonan Syndrome Support Group. Inc ( TNSSG Inc ).

Noonan syndrome
Association for Noonan syndrome. Bodil Hasle. The frequency of the Noonan syndrome is estimated to be between 1:1,000 and 1:2,500 in the general population. It has not been investigated, but it is assumed that about 30–40 children per year are born in Norway with this condition ... At present there are no biochemical tests to prove the diagnosis, but geneticists are carrying out active research on this ...

Noonan Syndrome
Adam.com. In some families, Noonan syndrome may have a male-to-male transmission pattern. The symptoms vary. Frequently seen abnormalities including webbing in the neck, changes in the sternun (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital heart disease(usually pulmonic stenosis) ...

[Slovakian] Klinický obraz pacientiek s Noonanovej a Turnerovým syndrómom z aspektu kardiológa
Katarína Kanáliková, Bratislava, Slovenská republika. Noonanovej a Turnerov syndróm sú odlišné genetické ochorenia s podobným fenotypom a eastým výskytom vrodených vývojových chýb srdca ...

[Italian] La Sindrome di Noonan
Nel 1963 la Dr.ssa Jacqueline Noonan, cardiologa pediatra all'Università del Kentucky, si accorse che un insolito difetto
cardiaco congenito, quale la stenosi della valvola polmonare, era a volte accompagnato da bassa statura e caratteristiche fisiche
quali ...

[S] Noonan Support Group (TNSSG)
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 ...

[S][Danish][German] Noonan Syndrom Danmark
Noonan Syndrom er en medfødt genetisk fejl, som p.t. ikke kan testes. Sygdommen er mest udpræget i barndommen. Oftest har børnene en medfødt hjertefejl, store spisevanskeligheder, lav vækst og forsinkelser i forskellige områder ...

[S] Noonan Syndrome
Ability.org. The Noonan Syndrome sites.

	This site offers information mostly for educational purposes. This site is not intended to alter health care protocols nor to serve as a sole source of medical information. Please read full disclaimer. Always seek the advice of your local health care provider.
	*Copyright 1998 - 2002 I.B.I.S. All rights reserved.* Sponsor: I.B.I.S. \| Site Concept: W. W., D. C. \| Page Content: W. Wertelecki, M. D. Email: Webmaster

21/January/2002 dc