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 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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"Resources" on this report.
Copyright 1987, 1990, 1996, 1998, 2000, 2009
NORD is very grateful to Judith Allanson, MD, Chief of Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa and Professor of Pediatrics, University of Ottawa, for assistance in the preparation of this report.
Synonyms of Noonan Syndrome
- Female Pseudo-Turner Syndrome
- Male Turner Syndrome
- NS
- Turner Phenotype with Normal Chromosomes (Karyotype)
Disorder Subdivisions
General Discussion
Noonan syndrome is a common genetic disorder that is typically evident at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes' inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, mild mental retardation, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings.
Noonan syndrome is an autosomal dominant genetic disorder caused by abnormalities (mutations) in four different genes: PTPN11, KRAS, SOS1 and RAF1.
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Organizations related to Noonan Syndrome
- American Heart Association
7272 Greenville Avenue
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: Review.personal.info@heart.org
Home page: http://www.americanheart.org
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Children's Cardiomyopathy Foundation (CCF)
PO Box 547
Tenafly NJ 07670
Phone #: 866-808-2873
800 #: --
e-mail: info@childrenscardiomyopathy.org
Home page: http://www.childrenscardiomyopathy.org
- Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: myer106w@wonder.em.cdc.gov
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Human Growth Foundation
997 Glen Cove Avenue
Glen Head NY 11545
Phone #: 516-671-4041
800 #: 800-451-6434
e-mail: hgf1@hgfound.org
Home page: http://www.hgfound.org/
- MAGIC Foundation
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
- Noonan Syndrome Support Group, Inc.
P.O. Box 145
Upperco MD 21155
Phone #: 410-374-5245
800 #: 888-686-2224
e-mail: wanda@noonansyndrome.org
Home page: http://www.noonansyndrome.org
- Restricted Growth Association
RGA Office
PO Box 1024
PETERBOROUGH Intl PE1 9GX
Phone #: 017-33 -759458
800 #: --
e-mail: N/A
Home page: http://www.restrictedgrowth.co.uk
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