Radiographs are necessary to pick up early osteoporosis and also platyspondyly which is common in all sufferers. Symptomatic treatment includes constant therapy for joint contractures and ophthalmic consultation. Reconstructive procedures may also be necessary if early hip degenerative arthritis becomes severe. Metaphyseal Chondrodysplasia Sufferers exhibit symptoms of a group of heterogenous disorders, all characterised by the metaphyseal changes of tubular bones with normal epiphysis. This is very rare.
Patients have hypercalcemia.
They are quite retarded with dwarfed limbs. Their eyes are set widely apart. They have a monkey like stance. Patients have coxa vara and genu varum which causes their stunted growth and bowed legs. The disorder is hard to diagnose early as the symptoms do not become pronounced until late in childhood.