Gorlin-Chaudhry-Moss Syndrome

Important
It is possible that the main title of the report Gorlin-Chaudhry-Moss Syndrome 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

GCM Syndrome
Craniosynostosis-Hypertrichosis-Facial and Other Anomalies
Craniofacial Dysostosis-PD Arteriosus-Hypertrichosis-Hypoplasia of Labia

Disorder Subdivisions

None

General Discussion

Gorlin-Chaudhry-Moss syndrome is an extremely rare inherited disorder characterized by premature closure of the fibrous joints (sutures) between certain bones in the skull (craniosynostosis), unusually small eyes (microphthalmia), absence of some teeth (hypodontia), and/or excessive amounts of hair (hypertrichosis) on most areas of the body. Affected individuals may also exhibit a mild delay in physical development (growth retardation); short fingers and/or toes; and/or underdevelopment (hypoplasia) of the two long folds of skin on either side of the vaginal opening (labia majora) in females. In addition, there may be an abnormal opening between the two large blood vessels that carry blood away from the heart (pulmonary artery and aorta), causing inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body (patent ductus arteriosus). In some cases, mild mental retardation may also be present. It is believed that Gorlin-Chaudhry-Moss syndrome may be inherited as an autosomal recessive trait.
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Resources

National Foundation for Ectodermal Dysplasias
410 East Main Street
PO Box 114
Mascoutah, IL 62258-0114
Tel: (618)566-2020
Fax: (618)566-4718
Email: maryk@nfed.org
Internet: http://www.nfed.org

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: 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

American Heart Association
National Center
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: inquire@heart.org
Internet: http://www.americanheart.org

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

NIH/National Institute of Dental and Craniofacial Research
Tel: (301)496-4261
Fax: (301)496-9988
Email: nidcr@nih.gov
Internet: http://www.nidcr.nih.gov/

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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: 7/25/2003
Copyright 1996, 2003 National Organization for Rare Disorders, Inc.

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