The KBG syndrome

Clin Dysmorphol. 2000 Apr;9(2):87-91. doi: 10.1097/00019605-200009020-00002.


We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Body Height
  • Bone and Bones / abnormalities*
  • Child
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics
  • Family Health
  • Humans
  • Male
  • Phenotype
  • Tooth Abnormalities / diagnosis*
  • Tooth Abnormalities / genetics