Cleidocranial Dysplasia

Important
It is possible that the main title of the report Cleidocranial Dysplasiais not the name you expected.

Synonyms

Cleidocranial Dysostosis
Dysplasia, Cleidocranial
Dysplasia, Osteodental
Marie-Sainton Disease

Disorder Subdivisions

None

General Discussion

Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic region). Delayed eruption of teeth, moderately short stature, a high arched palate, a wide pelvic joint, failure of the lower jaw joints to unite, and fingers that are irregular in length may also be present. Cleidocranial dysplasia is inherited as an autosomal dominant genetic trait.
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Resources

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

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

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas
TX
75204
800: (800)535-3643NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov/Health_Info

European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester
M13 9PT
UK
Tel: 44 161 275 5642
Fax: 44 161 275 5082
info@esdn.org
http://www.esdn.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

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: 5/20/2008
Copyright 1993, 1995, 1996, 2003, 2004 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 20, 2008

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