Clinical Characteristics

Mutations in GZF1 gene cause malformations involving the:

Skeletal system

  • Laxity of joints
  • Dislocation of large joints
  • Club foot deformity
  • Sideway curvature of the back
  • Excessive outward curve of the back
  • Excessive inward curve of the back
  • Pigeon chest (protrusion of the sternum and ribs)
  • Short stature


  • Severe myopia
  • Glaucoma
  • Separation of the retina from the layer underneath
  • Congenital malformation of the eye causing defects in the lens, iris, or retina

Hearing loss may also be present.