The specific signs and symptoms associated with LWD can vary greatly from one person to another. Generally, females appear to be affected more severely than males. The classic findings of the disorder are mesomelic shortening of the limbs, short stature, and Madelung deformity. Some individuals do not develop Madelung deformity and/or may obtain normal height.
Mesomelic shortening of the limbs describes abnormal shortening of the middle portion of the arms and legs in relation to the upper (proximal) portions, which means that the forearms and lower legs are disproportionately shorter than the upper arms and legs. Consequently, the arms and legs are disproportionate to the trunk of the body. Sometimes, the shin bone (tibia) and the lower arm (radius and ulna) may be abnormally bowed. Less often, wrist, knee or Ankle Pain may occur. Mesomelia usually first becomes apparent in school-aged children and can increase in frequency and severity with age. In LWD, the degree of Short stature can vary greatly from one person to another. Often, Short stature is mild and final adult height is only slightly reduced.
Affected individuals may also have an abnormality of the wrist known as Madelung deformity that becomes more apparent around puberty. Madelung deformity is characterized by the bowing and shortening of the bones in the forearms (the radius and the ulna) and the dislocation of the ulna, resulting in the abnormal deviation or misalignment of the wrist. Generally, bilateral Madelung deformity is observed, i.e. both wrists are affected. Affected individuals may have a limited range of movements of the wrists and elbows and/or may experience wrist Pain and visible changes in the appearance of the wrist.
Additional symptoms may include a highly arched roof of the mouth (palate), short, thick middle bones of the hand (metacarpals), abnormal sideways curvature of the spine (scoliosis), and overgrowth (hypertrophy) of the calf muscles.