It is now known that Kniest dysplasia is in the spectrum of type II collagen conditions. Kniest dysplasia is usually diagnosed at birth. Close opthomalogic follow-up is important to monitor for eye problems. Hearing loss can be present. Hearing should be tested.
Inguinal hernia can be present.
The joints are enlarged at birth. Motor milestones are often delayed secondary to joint deformities. Progressive and painful joint enlargement can be accompanied by flexion contractures. Muscle atrophy may then result from disuse. Due to the kyphoscoliosis, the trunk appears short in later childhood.