Brachmann-de Lange syndrome with normal IQ

Am J Med Genet. 1993 Nov 15;47(7):995-8. doi: 10.1002/ajmg.1320470711.


The Brachmann-de Lange syndrome is a disorder with a high degree of clinical variability, generally associated with moderate to severe mental retardation. To date, 7 previous cases of Brachmann-de Lange syndrome with normal intelligence (IQ > 70) have been described. We report the eighth case of Brachmann-de Lange syndrome with normal intelligence. In reviewing the literature, consistent clinical manifestations seen in these 8 patients that are of prognostic value are the absence of significant limb anomalies and birth weight > 2,500 g.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • De Lange Syndrome / genetics
  • De Lange Syndrome / pathology
  • De Lange Syndrome / psychology*
  • Face / abnormalities
  • Humans
  • Intelligence*
  • Limb Deformities, Congenital
  • Male
  • Phenotype