Important It is possible that the main title of the report Noonan Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
female pseudo-Turner syndrome
male Turner syndrome
Turner phenotype with normal chromosomes (karyotype)
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) and hypertrophic cardiomyopathy. Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, learning difficulties or mild intellectual disability, 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 main genes: PTPN11 (50%), SOS1 (13%), RAF1 (3-17%), KRAS (less than 5%), with a handful of individuals having a mutation in NRAS, BRAF or MEK2. Noonan-like disorders are found in association with mutations in SHOC2 and CBL.
Human Growth Foundation 997 Glen Cove Avenue Suite 5 Glen Head, NY 11545 Tel: (516)671-4041 Fax: (516)671-4055 Tel: (800)451-6434 Email: firstname.lastname@example.org Internet: http://www.hgfound.org/
MAGIC Foundation 6645 W. North Avenue Oak Park, IL 60302 Tel: (708)383-0808 Fax: (708)383-0899 Tel: (800)362-4423 Email: email@example.com Internet: http://www.magicfoundation.org
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
The Arc 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: firstname.lastname@example.org Internet: http://www.thearc.org
American Heart Association 7272 Greenville Avenue Dallas, TX 75231 Tel: (214)784-7212 Fax: (214)784-1307 Tel: (800)242-8721 Email: Review.email@example.com Internet: http://www.heart.org
Restricted Growth Association PO Box 5137 Yeovil, BA20 9FF United Kingdom Tel: 03001111970 Fax: 03001112454 Email: firstname.lastname@example.org Internet: http://www.restrictedgrowth.co.uk
NIH/National Heart, Lung and Blood Institute P.O. Box 30105 Bethesda, MD 20892-0105 Tel: (301)592-8573 Fax: (301)251-1223 Email: email@example.com Internet: http://www.nhlbi.nih.gov/
Noonan Syndrome Support Group, Inc. P.O. Box 145 Upperco, MD 21155 Tel: (410)374-5245 Tel: (888)686-2224 Email: firstname.lastname@example.org Internet: http://www.noonansyndrome.org
Children's Cardiomyopathy Foundation PO Box 547 Tenafly, NJ 07670 USA Tel: (866)808-2873 Fax: (201)227-7016 Email: email@example.com Internet: http://www.childrenscardiomyopathy.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 9/24/2012 Copyright 1987, 1990, 1996, 1998, 2000, 2009, 2011, 2012 National Organization for Rare Disorders, Inc.
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