Cutis Marmorata Telangiectatica Congenita
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Cutis Marmorata Telangiectatica Congenita is not the name you expected.
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital (present at birth)disorder characterized by discolored patches of skin caused by widened (dilated) surface blood vessels. As a result, the skin has a purple or blue "marbled" or "fishnet" appearance (cutis marmorata). In some affected individuals, ulcerations or congenital skin defects (aplasia cutis) can be present. The latter association can be part of Adams-Oliver syndrome. Additional associated abnormalities have been reported including pink or dark red, irregularly shaped patches of skin (nevus flammeus); loss of muscle tissue (wasting) on one side of the body (hemiatrophy); elevated fluid pressure within the eye (glaucoma); and/or undergrowth (hypotrophy) of one leg. However, many if not all of those cases represent forms of Klippel-Trenaunay syndrome or related disorders, in particular Cowden's disease. The most common association of true CMTC is with soft tissue (subcutaneous fat and muscle) hypoplasia. The disorder formerly known as macrocephaly-cutis marmoratatelangiectatica congenital (M-CMTC) is a distinct genetic disease and is now called macrocephaly-capillary malformation (M-CM/MCAP) Virtually all cases of CMTC occur randomly for no apparent reason (sporadically). It is thought that CMTC represents a form of genetic mosaicism.
CMTC-OVM Cutis Marmorata Telangiectatica
- Bitterschoten 15
- Leusdan, 3831 PC
- The Netherlands
- Tel: 31334946671
- Email: email@example.com
- Website: http://www.cmtc.nl
- 3715 Wesley Chapel Rd.
- Zanesville, OH 43701
- Email: firstname.lastname@example.org
- Website: http://www.cmtcovm-us.org/
- P.O. Box 174
- Thetford Center, VT 05075-0174
- Tel: (802)785-4029
- Email: email@example.com
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
- Website: http://rarediseases.info.nih.gov/GARD/
- 4581 Magnolia Dr.
- Suffolk, VA 23435
- Tel: (757)615-3686
- Email: firstname.lastname@example.org
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or email@example.com
- Website: http://www.marchofdimes.org and nacersano.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
National Organization of Vascular Anomalies
- PO Box 38216
- Greensboro, NC 27438-8216
- Email: firstname.lastname@example.org
- Website: http://www.novanews.org
- PO Box 305
- West Salem, NC 44287
- Tel: (419)853-4525
- Fax: (405)377-3403
- Email: email@example.com
- Website: http://www.nevusnetwork.org/
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: firstname.lastname@example.org
- Website: http://www.thearc.org
Vascular Birthmarks Foundation
- P.O. Box 106
- Latham, NY 12110
- Tel: (877)823-4646
- Email: email@example.com
- Website: http://www.birthmark.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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Last Updated: 7/10/2015
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