Weill-Marchesani Syndrome 1

Background and History: 

This rare disorder (WMS) of connective tissue was described independently by physicians Georges Weill and Oswald Marchesani in the 1930s. 

Clinical Correlations: 

The major features of this disorder are: short stature, short fingers and stiff joints, 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.  Some individuals have difficulty making a tight fist as the finger joints especially are stiff.  It is not unusual for some patients to have problems with their heart valves as well.

Short stature and short, stiff fingers have been observed in carriers (having one mutant gene) of the autosomal recessive form of WMS.


About 45% of cases are 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).  About 39% of cases are inherited in an autosomal dominant pattern in which case the condition is passed directly from parent to child.  The remainder may represent new mutations.

Diagnosis and Prognosis: 

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 latter requires life-long monitoring and appropriate treatment.

Additional Information
Autosomal dominant
Autosomal recessive