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

Kniest Dysplasia


Synonyms of Kniest Dysplasia
  • Kniest chondrodystrophy
  • Kniest Syndrome
  • Metatropic dwarfism, type II
  • Metatropic dysplasia, type II
  • Swiss Cheese Cartilage Syndrome

Disorder Subdivisions



    General Discussion
    Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasias.

    Some of the signs and symptoms of Kniest dysplasia, such as short stature, enlarged knees, and cleft palate, are usually present at birth. Other characteristics may not appear for two or three years.

    Organizations related to Kniest Dysplasia
    • 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/
    • Kniest SED Group
      None
      None None None
      Phone #: N/A
      800 #: N/A
      e-mail: support@ksginfo.org
      Home page: http://www.ksginfo.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/
    • 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