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

Achondroplasia


Synonyms of Achondroplasia
  • ACH
  • Achondroplastic Dwarfism

Disorder Subdivisions



    General Discussion
    Achondroplasia is a rare genetic disorder characterized by an unusually large head (macrocephaly) with a prominent forehead (frontal bossing) and flat (depressed) nasal bridge; short upper arms and legs (rhizomelic dwarfism); unusually prominent abdomen and buttocks; and short hands with fingers that assume a trident or three-pronged position during extension. An autosomal dominant genetic trait, achondroplasia occurs as a result of a fresh (new) spontaneous change (mutation) in genetic material in about 90 percent of cases. In achondroplasia, affected individuals have impaired ability to form bone from cartilage (endochondral bone formation).

    Organizations related to Achondroplasia
    • European Skeletal Dysplasia Network (ESDN)
      Wellcome Trust Centre for Cell-Matrix Research
      Manchester None M13 9PT
      Phone #: 44 -161- 275 5642
      800 #: N/A
      e-mail: info@esdn.org
      Home page: http://www.esdn.org
    • 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/
    • Little People of America, Inc.
      250 El Camino Real
      Tustin CA 92780
      Phone #: 714-368-3689
      800 #: 888-572-2001
      e-mail: info@lpaonline.org
      Home page: http://www.lpaonline.org
    • Little People's Research Fund, Inc.
      616 Old Edmondson Avenue
      Catonsville MD 21228-3305
      Phone #: 410-747-1100
      800 #: 800-232-5773
      e-mail: lprf@lprf.org
      Home page: http://www.lprf.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 Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • 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



    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