Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Noonan Syndrome


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.

    Organizations related to Noonan Syndrome
    • American Heart Association
      National Center
      Dallas TX 75231-4596
      Phone #: 214-373-6300
      800 #: 800-242-8721
      e-mail: inquire@heart.org
      Home page: http://www.americanheart.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
      2112 North Wilkins Road
      Swanton OH 43558
      Phone #: 419-825-5575
      800 #: --
      e-mail: chaser@compuserve.com
      Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
    • 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 for Children's Growth
      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 #: 914-428-7100
      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
      P.O. Box 4744
      Dorset Intl DT2 9FA
      Phone #: 013-08 -898445
      800 #: --
      e-mail: N/A
      Home page: http://www.restrictedgrowth.co.uk
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html