Important
It is possible that the main title of the report Craniometaphyseal Dysplasiais not the name you expected.
Synonyms
- Osteochondroplasia
- CMD
- Jackson type CMD
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: 2145709099
Fax: 2145708811
Tel: 8005353643
Email: csmith@ccakids.com
Internet: http://www.ccakids.com
FACES: The National Craniofacial Association
P.O. 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
Forward Face, Inc.
317 East 34th Street
Room 901
New York, NY 10016
Tel: (212)684-5860
Fax: (212)684-5864
Tel: (800)393-3223
Email: info@forwardface.org
Internet: http://www.forwardface.org
AmeriFace
PO Box 751112
Las Vegas, NV 89136
USA
Tel: 7027699264
Fax: 7023415351
Tel: 8884861209
Email: info@ameriface.org
Internet: http://www.ameriface.org
National Foundation for Facial Reconstruction
317 East 34th St.
#901
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Tel: (800)422-3223
Email: whitney@nffr.org
Internet: http://www.nffr.org
National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. (r) (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
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, 2005National Organization for Rare Disorders, Inc.
