National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Craniometaphyseal Dysplasia is not the name you expected.
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.
- PO Box 751112
- Las Vegas, NV 89136
- Tel: (702)769-9264
- Fax: (702)341-5351
- Tel: (888)486-1209
- Email: firstname.lastname@example.org
- Website: http://www.ameriface.org
Children's Craniofacial Association
- 13140 Coit Road
- Suite 517
- Dallas, TX 75240
- Tel: (214)570-9099
- Fax: (214)570-8811
- Tel: (800)535-3643
- Email: contactCCA@ccakids.com
- Website: 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: email@example.com
- Website: http://www.faces-cranio.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
- Website: http://rarediseases.info.nih.gov/GARD/
- 333 East 30th Street, Lobby Unit
- New York, NY 10016
- Tel: (212)263-6656
- Fax: (212)263-7534
- Email: firstname.lastname@example.org
- Website: http://www.myface.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 4/11/2008
Copyright 2005 National Organization for Rare Disorders, Inc.
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