Diseases & Conditions


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Macrocephaly, Cutis Marmorata Telangiectatica Congenita Syndrome


Synonyms of Macrocephaly, Cutis Marmorata Telangiectatica Congenita Syndrome
  • M-CMTC
  • Megalencephaly-Cutis Marmorata Telangiectatica Congenita Syndrome

Disorder Subdivisions



    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.

    Organizations related to Macrocephaly, Cutis Marmorata Telangiectatica Congenita Syndrome
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • Nevus Network
      The Congenital Nevus Support Group
      West Salem OH 44287
      Phone #: 419-853-4525
      800 #: --
      e-mail: info@nevusnetwork.org
      Home page: http://www.nevusnetwork.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/
    • Vascular Birthmarks Foundation
      P.O. Box 106
      Latham NY 12110
      Phone #: N/A
      800 #: 877-823-4646
      e-mail: hvbf@aol.com
      Home page: 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