Pseudoachondroplastic patients should look out for neurological symptoms such as weakness of the lower limbs, incontinence, pain in the legs, reduced endurance, and tingling/ numbness of the legs. These symptoms may indicate compression of the spinal cord in the neck.
Lower extremity pain of gradual onset or changes in walking (waddling/ limp) may also result from altered alignment of the legs. In later life, pain in the hips and knees is usually the result of degenerative arthritis.
Generally all skeletal dysplasias warrant multidisciplinary attention. Regular assessment by an orthopedist, geneticist, pediatrician, dentist, neurologist, and physical therapist will provide the most comprehensive treatment.
