Clinically and radiologically the disease is characterized by severe shortening of long bones (limb's both proximal and median segments are affected), aplasia or severe hypoplasia of ulna and fibula, thickened and curved radius and tibia. These anomalies can cause deformities of the hands and feet. Hypoplasia of the mandible can also be present.
Langer mesomelic dysplasia
Campomelic dysplasia
Acromesomelic dysplasia
Mondini dysplasia
Nijmegen breakage syndrome
Brill–Zinsser disease
MUTYH-associated polyposis
Trevor disease