Presentation
People with this condition are short-statured from birth, with a short trunk, shortened limbs, and large joints. Adult height ranges from 107 to 147 cm (42 inches to 58 inches). Progressive joint enlargement and pain restrict joint movement, which limits activity and interferes with standing and walking. These joint problems can also lead to arthritis. Other skeletal signs include a progressively shortened spine due to spinal curvature (kyphoscoliosis and lumbar lordosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and occasionally a foot deformity called clubfoot.
People with Kniest dysplasia have round, flat faces with prominent and wide-set eyes. Some infants are born with an opening in the roof of the mouth (a cleft palate). Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) is common, as are other eye problems that can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.
Read more about this topic: Kniest Dysplasia
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