Signs and symptoms include asymmetric limb shortening, spinal deformity and also cataracts. This disorder produces short limbed, short trunked dwarfism. The many symptoms include joint stiffness, distorted femora, scoliosis, kyphosis plus hypoplaslic pelvis and spine. Kneist Syndrome sufferers are also prone to respiratory problems, otitis media, cleft palate, myopia plus retina detachment. 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.