Macrocephaly, Cutis Marmorata Telangiectatica Congenita Syndrome

National Organization for Rare Disorders, Inc.

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: (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

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: (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/Health_Info

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: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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