Clinical Characteristics

Patients with JBTS have variable features which range from mild to severe:

  • Facial features of a prominent forehead, broad upturned nose and open mouth are common.
  • Infants may also have hypotonia (floppiness), ataxia (unsteady walk) and developmental delay. This can make sitting and standing difficult to achieve in children.
  • Jerky eye movements and difficulty moving the eyes to follow an object (oculomotor apraxia).
  • Learning difficulties affecting speech and behaviour may also be present.
  • Epilepsy.
  • Kidney cysts which affect kidney function is associated in 25% of cases.
  • Abnormal breathing patterns may also be noticed early on in infancy.