Macrocephaly syndromes

Semin Pediatr Neurol. 2007 Sep;14(3):128-35. doi: 10.1016/j.spen.2007.07.004.


Anatomic megalencephaly resulting in macrocephaly occurs in more than 100 multiple congenital anomaly syndromes. A number of macrocephaly syndromes show accompanying somatic overgrowth, but some show normal somatic growth. This discussion provides a review of several macrocephaly syndromes that might be encountered by the pediatric neurologist. Growth patterns, craniofacial features, congenital anomalies, central nervous system imaging findings, performance, and mode of inheritance for each condition are reviewed as well as recent developments in the molecular genetic testing for these conditions.

Publication types

  • Review

MeSH terms

  • Brain Diseases* / genetics
  • Brain Diseases* / pathology
  • Brain Diseases* / physiopathology
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology
  • Craniofacial Abnormalities / physiopathology
  • Humans