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
Eyes
- 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.