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Craniometaphyseal Dysplasia

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Craniometaphyseal Dysplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Osteochondroplasia
  • CMD
  • Jackson type CMD

Disorder Subdivisions

  • None

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.

Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Internet: http://www.ccakids.com

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

AmeriFace
P.O. Box 751112
Limekiln, PA 19535
USA
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Internet: http://www.ameriface.org

National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Internet: http://www.nffr.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/11/2008
Copyright  1989, 1997, 2005 National Organization for Rare Disorders, Inc.

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