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Megalencephaly-Capillary Malformation

Abstract

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NORD is very grateful to Ghayda Mirzaa, MD, Acting Clinical Instructor/Molecular Genetics Fellow, Department of Human Genetics, University of Chicago; Maria C. Garzon, MD, Professor of Clinical Dermatology and Clinical Pediatrics, Columbia University; and William B. Dobyns, MD, Professor of Human Genetics, Neurology and Pediatrics, Department of Human Genetics, University of Chicago, for assistance in the preparation of this report.

Synonyms of Megalencephaly-Capillary Malformation

  • macrocephaly-capillary malformation
  • macrocephaly-cutis marmorata telangiectatica congenita
  • MCAP
  • M-CM
  • M-CM syndrome
  • M-CMTC

Disorder Subdivisions

  • No subdivisions found.

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.

Organizations related to Megalencephaly-Capillary Malformation

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

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