This rare condition (WMS) of connective tissue was described independently by physicians Georges Weill and Oswald Marchesani in the 1930s. It consists of at least three disorders that are inherited in one of two patterns, autosomal recessive (AR) and autosomal dominant (AD), caused by three different mutations.
The major features of this disorder are: short stature, and an abnormally shaped lens of the eye. The latter is sometimes called microspherophakia because it is smaller than normal and more round. It is also abnormally mobile and sometimes dislocates. The latter characteristic sometimes leads to a specific type of glaucoma called pupillary block because it plugs the pupil thereby blocking the normal circulation of ocular fluids and raises the pressure in the eye. All individuals are short in stature. Congenital heart problems may occur as well.
This disorder is inherited in an autosomal recessive pattern which requires that both parents are carriers (unaffected although they may be short in stature and have stiff joints). There is a 25% risk that each of their children inherit this condition.
The diagnosis is often made by an eye doctor based on extreme nearsightedness and the abnormally shaped lens. Life span is normal provided any cardiac defects are appropriately treated. The major clinical problem for most patients results from the abnormal lens and the occurrence of glaucoma. The condition requires life-long monitoring and appropriate treatment.