This disorder is one of a number of skeletal disorders causing shortness of stature and cataracts. The exact classification remains to be determined and awaits more extensive gene studies.
Abnormalities of bone growth lead to shortening of the arms and legs, sometimes asymmetrically. Sometimes joints such as the knee and hips may become scarred and stiff. The skin in newborns may be scaly and reddened but later becomes more darkly pigmented in a whorled pattern. The skin may also be thickened and scaly in adults. Scalp hair can be coarse and often bald spots appear. The bridge of the nose may be flat and the forehead can be prominent. There are no mental effects.
Many patients develop early-onset cataracts.
The mutation causing this disorder is located on the X-chromosome and, since it is lethal in males who have only a single X-chromosome, only females have this condition. Half of their male offspring will receive the mutated gene and be non-viable while half of their daughters will be affected like she is.
Diagnosis is a team effort by orthopedists, radiologists, and ophthalmologists. Treatment for the bone disease is not available but if cataracts cause significant visual disability, they can be removed.