Facial Phenotypes

Facial Phenotypes (or characteristics) can be a significant clue in the initial identification of any genetic condition.  Many individuals with Ks have distinctive facial features which become coarser as they evolve with age.  We hope that this page can document those changes and possibly aid future diagnosis.​

Recognised features associated with Kleefstra syndrome include:​​​​​

  • Relative or absolute microcephaly (abnormal smallness of the head, a congenital condition associated with incomplete brain development) & branchycephaly (from Greek roots meaning “short” and “head”) and the shape of the skull is shorter than typical
  • Arched eyebrows
  • Synophrys (the presence of abundant hair between the eyebrows)
  • Upslanted palpebral fissures (the opening between the eyelids)
  • Hypertelorism (a term used to describe an abnormally large distance between the eyes)
  • Mid-face hypoplasia (the centre of the face develops more slowly than the eyes, forehead, and lower jaw)
  • Anteverted nares, short nose, depressed nasal bridge
  • Thin upper lip, cupid bowed with downturned corners
  • Open mouth in infant with protruding tongue and everted thickened lower lip
  • Macroglossia (large tongue)
  • Prognathism (prominent jaw) with pouting lower lip



Page updated: 29-04-2017