Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Clin Genet. 1997 Jul;52(1):37-46. doi: 10.1111/j.1399-0004.1997.tb02512.x.


We report on three patients with probable cardio-facio-cutaneous (CFC) syndrome. They present clinical findings of this condition such as: growth failure, heart defects, typical craniofacial appearance, ectodermal abnormalities, and developmental delay. We also give a detailed review of the previously published articles on CFC syndrome and discuss the differences between CFC, Noonan, and Costello syndromes. Other differential diagnoses are considered.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis*
  • Diagnosis, Differential
  • Female
  • Growth Disorders
  • Hair / abnormalities
  • Heart Septal Defects, Atrial*
  • Humans
  • Infant
  • Intellectual Disability
  • Male
  • Pulmonary Valve Stenosis*
  • Skin Abnormalities*
  • Syndrome