1. An inheritable disorder of bone, characterized by a short stature, a large skull with absence of knitting of the anterior frontanel, receding chin, shortness of fingers, and toes, and fragility of bones.

Radiographs show an abnormal thickness of bones, which is responsible for the fractures.

2. An autosomal recessive disease that affects bones and resembles osteopetrosis, but the disease is considered to be mild and not associated with hematological or neurological abnormalities.

The only treatment is surgical correction of deformities and fractures.