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Megalencephaly-Capillary Malformation

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Megalencephaly-Capillary Malformation 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-CM
  • MCAP
  • macrocephaly-capillary malformation
  • M-CMTC
  • macrocephaly-cutis marmorata telangiectatica congenita
  • M-CM syndrome

Disorder Subdivisions

  • None

General Discussion

Summary

Megalencephaly-capillary malformation syndrome (MCAP), formerly known as macrocephaly-capillary malformation, is a rare, complex disorder involving the skin, connective tissue, brain and other organs that is usually present at birth. Affected individuals have a disproportionately large head and capillary malformations on the skin of the midline face, trunk and limbs. These capillary malformations often show a lacy or reticulated pattern (resembling a net or web, and are sometimes termed "cutis marmorata"). Most children with MCAP have an enlarged brain (or megalencephaly), in addition to other findings on brain MRI associated with neurologic problems.



Introduction

Multiple terms have been used in the past for this syndrome. The earliest one was macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) because the vascular lesions were mistakenly believed to be consistent with CMTC. However, careful examination of the skin in these children revealed that the vascular lesions are not CMTC but rather capillary malformations (described below), and so the syndrome was accurately renamed to "macrocephaly-capillary malformation syndrome" (or M-CM). Recently, the name was modified from this latter term to "megalencephaly-capillary malformation" (or MCAP, in short) because the term "macrocephaly" refers to a large head due various causes, whereas "megalencephaly" is a more specific and accurate term that refers to the truly enlarged brain present in this syndrome.

Resources

Nevus Network

PO Box 305

West Salem, NC 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



The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

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/National 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



CMTC-OVM Association

Bitterschoten 15

Leusdan, 3831 PC

The Netherlands

Tel: 31334946671

Email: president@cmtc.nl

Internet: http://www.cmtc.nl



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

Internet: http://rarediseases.info.nih.gov/GARD/



National Organization of Vascular Anomalies

PO Box 38216

Greensboro, NC 27438-8216

Email: admin@mail.novanews.org

Internet: http://www.novanews.org



M-CM Network

PO Box 97

Chatham, NY 12037

USA

Internet: http://www.m-cm.net



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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:  12/8/2011

Copyright  2006, 2011 National Organization for Rare Disorders, Inc.

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