Weill-Marchesani Syndrome 2

Background and History: 

This is an extremely rare disorder described in the early 1990s.  It has many features of the Weill-Marchesani syndrome 1.  Glaucoma may be a more important component than in the WM syndrome.

Clinical Correlations: 

Individuals have glaucoma and lens displacement with progressive joint stiffness and short digits. Skin folds are described as thickened.  Individuals have difficulty extending their arms at the elbow as well as fully extending their fingers.  Extreme near-sightedness has been reported.  One individual had retinal detachments in both eyes resulting in blindness.  Short stature is characteristic.


This is a presumed autosomal dominant disorder based on one three generation family reported.  Affected parents can expect that on average half of their children will have the same disorder.

Diagnosis and Prognosis: 

The major symptoms of this disease involve the eye and eye examinations are recommended throughout life for glaucoma.  The lenses displace downward and this event plus the extreme near-sightedness requires that the glasses prescription be checked frequently.  One patient had severe glaucoma beginning in early childhood and this must be considered a threat to vision throughout life.  Longevity is not impacted.

Additional Information
Autosomal dominant