MusculoSkeletal Summary

There are numerous skeletal anomalies found in children with Kabuki Syndrome, ranging from rib anomalies to more significant issues such as scoliosisi. Hypotonia and lax ligaments can contribute to dislocations of the hip in early childhood and patellar dislocations during puberty years.

The musculoskeletal characteristics of Kabuki Syndrome include:

  • Jackson_6short fingers
  • short middle phalanx of fifth finger
  • syndactylyi - mild webbing between fingers
  • cranial abnormalities
  • vertebral abnormalities
  • rib anomalies
  • scoliosis
  • hypotonia
  • joint laxity
  • dislocations of hip, patella and shoulders
  • Vertebral anomalies can include butterfly vertebra, sagittal cleft, narrow intervertebral disc space, spina bifidai occulta, and scoliosis. Joint hypermobility is very common, in particular in the younger child. The hypermobility, exacerbated by hypotonia, can lead to dislocation of joints, in particular the hip, knees and shoulders. It is yet unclear whether joint laxity is neurogenic or due to a connective tissuei disorder. Short fingers, in particular the fifth finger, is common. Webbing between the fingers is less commonly seen.