However, after a child has grown for several years, the shortening becomes much more apparent in the trunk. In this condition the shortening affects the trunk and the limbs. It is evident at birth. It is usually associated with clubfoot, contractures of the hip, knees, elbows and hands. This condition can be serious and progressive, and cause the development of spinal curvature.
Cleft palate occurs in some individuals.
These tissues may include the outer ear, the bones of the inner area, the nose, the larynx, parts of the rib cage, and in time the joints of the fingers so that they will not bend. The skull is relatively normal but the neck is short and may show limited mobility. Sometimes the nerves of the spinal cord become compressed leading to numbness or pain. For more information about this condition check the Diastrophic Dysplasia Help Page. These are a group of diseases where enzyme deficiencies result in the build up of unwanted chemicals in the tissues of the bones, cartilage, brain, blood vessels and heart, skin, etc.