GZF1

Clinical Characteristics

Skeletal

  • Hyperextensibility of joints
  • Dislocation of large joints
  • Talipes equinovarus
  • Scoliosis
  • Kyphosis
  • Lordosis
  • Pectus carinatum
  • Short stature

Eyes

  • Severe myopia
  • Glaucoma
  • Retinal detachment
  • Iris and chorioretinal coloboma

Hearing loss may also be present.