Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review

Am J Med Genet A. 2004 Sep 15;130A(1):45-51. doi: 10.1002/ajmg.a.30235.


We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndactyly, hemihypertrophy, CNS anomalies, and developmental delay. Based on the findings in our 6 patients and on 69 patients previously reported we listed the very frequent (observed in >75%), frequent (25-75%), and less frequent (>25%) components of the syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / pathology*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Male
  • Nervous System Malformations
  • Skull / abnormalities*
  • Syndrome
  • Telangiectasis / congenital*
  • Telangiectasis / pathology