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Information and Resources
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
2585 Treehouse Drive
Lake Ridge, VA 22192
USA
Tel: (419)853-4525
Fax: (405)377-3403
Email: info@nevusnetwork.org
Internet: http://www.nevusnetwork.org/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
The Arc
1660 L Street, NW, Suite 301
Washington, DC 20036
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org
NIH/NationaI Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/
Vascular Birthmarks Foundation
P.O. Box 106
Latham, NY 12110
USA
Tel: (877)823-4646
Email: hvbf@aol.com
Internet: http://www.birthmark.org
MUMS 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/
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
TDD: (888)205-3223
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Internet: http://rarediseases.info.nih.gov/GARD
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: 4/29/2008
Copyright 2006 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
Last Updated:
October 07, 2011
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.
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