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

Pyknodysostosis


Synonyms of Pyknodysostosis
  • PKND
  • PYCD
  • Pycnodysostosis

Disorder Subdivisions



    General Discussion
    Pyknodysostosis is a rare disorder that is inherited as an autosomal recessive genetic trait. This disorder is characterized by short stature, increased bone density (osteosclerosis/osteopetrosis), underdevelopment of the tips of fingers with absent or small nails, fragile bones that may fracture easily, abnormal or absent collarbone (clavicle), and skull abnormalities with a protruding forehead and bulge on the back of the skull caused by delayed suture closure.

    Organizations related to Pyknodysostosis
    • AmeriFace
      PO Box 751112
      Las Vegas NV 89136
      Phone #: 702-769-9264
      800 #: 888-486-1209
      e-mail: info@ameriface.org
      Home page: http://www.ameriface.org
    • Children's Craniofacial Association
      13140 Coit Road
      Dallas TX 75240
      Phone #: 214-570-9099
      800 #: 800-535-3643
      e-mail: csmith@ccakids.com
      Home page: http://www.ccakids.com
    • Hide & Seek Foundation for Lysosomal Disease Research
      4123 Lankershim Blvd.
      North Hollywood CA 91602-2828
      Phone #: 818-762-8621
      800 #: N/A
      e-mail: info@hideandseek.org
      Home page: http://www.hideandseek.org
    • 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



    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