Cerebrocostomandibular Syndrome

Important
It is possible that the main title of the report Cerebrocostomandibular Syndromeis not the name you expected.

Synonyms

CCM Syndrome
CCMS
Rib Gap Defects with Micrognathia

Disorder Subdivisions

None

General Discussion

Cerebrocostomandibular syndrome is an extremely rare inherited disorder characterized by an abnormally small jaw (micrognathia), malformations of the roof of the mouth (palate), improper positioning of the tongue (glossoptosis), and abnormal development of the ribs (rib dysplasia). In most cases, such abnormalities contribute to respiratory problems (insufficiency) during early infancy. Although some affected individuals have normal intelligence, others exhibit moderate to severe mental retardation. Although research suggests that cerebrocostomandibular syndrome is usually inherited as an autosomal recessive genetic trait, some cases have also been documented in the medical literature that suggest autosomal dominant inheritance.

Resources

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville
MD
20852
United States
Tel: (800)321-2742
Fax: (301)571-0457
800: (800)321-2742
TDD: (301)897-5700
actioncenter@asha.org
http://www.asha.org

Cleft Palate Foundation
1504 East Franklin Street
Suite 102
Chapel Hill
NC
27514-2820
USA
Tel: (919)933-9044
Fax: (919)933-9604
800: (800)242-5338
info@cleftline.org
http://www.cleftline.org

Prescription Parents
Prescription Parent, Inc.
P.O. Box 920554
Needham
MA
02492
USA
Tel: (617)499-1936
info@prescriptionparents.org
http://www.prescriptionparents.com

Campbell, Robert, M.D.
Santa Rosa Children's Hospital
519 West Houston Street
San Antonio
TX
78207
Tel: (210)704-2988National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas
TX
75204
800: (800)535-3643NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda
MD
20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
nhlbiinfo@rover.nhlbi.nih.govNIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda
MD
20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
800: (800)241-1044
TDD: (800)241-1105
nidcdinfo@nidcd.nih.gov
http://www.nidcd.nih.gov

Wide Smiles
P.O. Box 5153
Stockton
CA
95205-0153
USA
Tel: (209)942-2812
Fax: (209)464-1497
JoSmiles@yahoo.com
http://www.widesmiles.org

CCMS Support Group
63 Stirrup Way
Burlington
NJ
08016
Tel: (609)239-7831
Fax: (609)239-6916
tmontague@home.com

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: 4/25/2008
Copyright 1988, 1989, 1997, 1998, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 25, 2008

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.