Diseases & Conditions


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Conradi Hunermann Syndrome


Synonyms of Conradi Hunermann Syndrome
  • Chondrodysplasia Punctata, X-linked Dominant Type
  • Chondrodystrophia Calcificans Congenita
  • Conradi Disease
  • Dysplasia Epiphysialis Punctata

Disorder Subdivisions



    General Discussion
    Conradi-Hunermann syndrome is a form of chondrodysplasia punctata, a group of rare, genetic disorders of skeletal development (skeletal dysplasias) characterized by unusual, dotlike (punctate) opacities representing abnormal accumulations of calcium salts (calcifications) within the growing ends of long bones (i.e., stippled epiphyses) and other regions. Conradi-Hunermann syndrome is commonly associated with mild to moderate growth deficiency; disproportionate shortening of long bones, particularly those of the upper arms (humeri) and the thigh bones (femora); short stature; and/or curvature of the spine. Many affected individuals also have a prominent forehead; unusually flattened midfacial regions (midfacial hypoplasia), with a low nasal bridge; loss of transparency of the lenses of the eyes (cataracts); sparse, coarse scalp hair; and/or abnormal thickening, dryness, and scaling of the skin. In rare cases, mild to moderate mental retardation may also be present. Evidence suggests that Conradi-Hunermann syndrome is usually inherited as an X-linked dominant trait that predominantly occurs in females. However, rare cases have also been reported in which males are affected.
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    Organizations related to Conradi Hunermann Syndrome
    • Foundation for Ichthyosis & Related Skin Types
      1364 Welsh Road G2
      North Wales PA 19454
      Phone #: 215-619-0670
      800 #: 800-545-3286
      e-mail: info@scalyskin.org
      Home page: http://www.scalyskin.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/
    • 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
    • NIH/National Eye Institute
      Building 31 Rm 6A32
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: 2020@nei.nih.gov
      Home page: http://www.nei.nih.gov/
    • 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