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

Craniometaphyseal Dysplasia


Synonyms of Craniometaphyseal Dysplasia
  • CMD
  • Jackson type CMD
  • Osteochondroplasia

Disorder Subdivisions



    General Discussion
    Craniometaphyseal dysplasia is an extremely rare genetic disorder characterized by distinctive abnormalities of the head and facial (craniofacial) area, impairment of certain nerves (cranial nerves) that emerge from the brain, and malformations of the long bones of the arms and legs. In infants and children with craniometaphyseal dysplasia, there may be overgrowth and/or abnormal hardening of certain bones of the skull (cranial hyperostosis and/or sclerosis) and overgrowth (hypertrophy) of craniofacial bones, resulting in widely-spaced eyes (ocular hypetelorism), an abnormally wide nasal bridge, an enlarged lower jaw (mandible), and a leonine facial appearance (leontiasis ossea). Compression of certain nerves emerging from the brain (cranial nerves) may result in loss of some motor function (paralysis) in the facial area (cranial nerve palsy) and hearing loss (conductive and/or sensorineural hearing impairment). In addition, in individuals with the disorder, the long bones of the arms and legs may develop abnormally, resulting in unusual club-like flaring or broadening of the end portions (metaphyses) of the bones (metaphyseal dysplasia). In some cases, craniometaphyseal dysplasia may be inherited as an autosomal dominant genetic trait; in other cases, the disorder may have an autosomal recessive mode of inheritance.

    Organizations related to Craniometaphyseal Dysplasia
    • 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
    • FACES: The National Craniofacial Association
      P.O. Box 11082
      Chattanooga TN 37401
      Phone #: 423-266-1632
      800 #: 800-332-2373
      e-mail: faces@faces-cranio.org
      Home page: http://www.faces-cranio.org
    • Forward Face, Inc.
      317 East 34th Street
      New York NY 10016
      Phone #: 212-684-5860
      800 #: 800-393-3223
      e-mail: info@forwardface.org
      Home page: http://www.forwardface.org
    • National Craniofacial Foundation
      3100 Carlisle Street
      Dallas TX 75204
      Phone #: --
      800 #: 800-535-3643
      e-mail: N/A
      Home page: N/A
    • National Foundation for Facial Reconstruction
      317 East 34th St.
      New York NY 10016
      Phone #: 212-263-6656
      800 #: 800-422-3223
      e-mail: whitney@nffr.org
      Home page: http://www.nffr.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