Macrocephaly, Cutis Marmorata Telangiectatica Congenita Syndrome

Important
It is possible that the main title of the report Macrocephaly, Cutis Marmorata Telangiectatica Congenita 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

M-CMTC
Megalencephaly-Cutis Marmorata Telangiectatica Congenita Syndrome

Disorder Subdivisions

None

General Discussion

Macrocephaly, cutis marmorata telangiectatica congenita syndrome (M-CMTC) is a very rare, complex disorder of the skin and other organ systems that is probably the result of unpredictable, (sporadic, random) mutations. This syndrome is characterized by a disproportionately large head, marbled-appearing skin with pink-to-red lacy patches (vascular malformations) on the skin of the trunk. Individuals with M-CMTC appear to be susceptible to neurological deficits as well.

Resources

Nevus Network
The Congenital Nevus Support Group
P.O. Box 305
West Salem, OH 44287
USA
Tel: 4198534525
Fax: 4053773403
Email: info@nevusnetwork.org
Internet: http://www.nevusnetwork.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

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
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

Vascular Birthmarks Foundation
P.O. Box 106
Latham, NY 12110
USA
Tel: 8778234646
Email: hvbf@aol.com
Internet: http://www.birthmark.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:
Copyright 2006 National Organization for Rare Disorders, Inc.

Go to top of page

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.