Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Ghayda M. Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman-Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

99 Scopus citations

Abstract

The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 patients evaluated for physical and neuroimaging characteristics of MCAP and MPPH and propose a more global view of these syndromes based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain malformations (most distinctively polymicrogyria, PMG), and variable connective tissue dysplasia. Based on these classes of developmental abnormalities, we propose that MCAP diagnostic criteria include progressive MEG with either vascular anomalies or syndactyly. In parallel, we propose that MPPH diagnostic criteria include progressive MEG and PMG, absence of the vascular anomalies and syndactyly characteristic of MCAP, and absence of brain heterotopia.

Original languageEnglish (US)
Pages (from-to)269-291
Number of pages23
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number2
DOIs
StatePublished - Feb 2012
Externally publishedYes

Keywords

  • Capillary malformation
  • Cerebellar tonsillar ectopia
  • Connective tissue dysplasia
  • Hydrocephalus
  • Mega corpus callosum
  • Megalencephaly
  • Polydactyly
  • Polymicrogyria
  • Syndactyly
  • Ventriculomegaly

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