A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability

Am J Med Genet A. 2005 Jul 1;136(1):84-6. doi: 10.1002/ajmg.a.30770.


We report on a baby presenting with ectrodactyly, heart defects, and mild facial dysmorphisms, an association recognized as acro-cardio-facial syndrome (ACFS). Based on the first three observations, the acronym CCGE, cleft palate, cardiac defect, genital anomalies, and ectrodactyly had been proposed to embrace the most consistent features of this syndrome. A subsequent report and the present patient point to an obvious interindividual and intrafamilial variability of this autosomal recessive disorder in which ectrodactyly was the sole characteristic shared by all affected individuals.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Face / abnormalities*
  • Fatal Outcome
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Palate / abnormalities
  • Syndactyly / pathology*
  • Syndrome