What is Weill Marchesani syndrome

Weill Marchesani syndrome is a rare genetic disorder that affects connective tissues in the body. It is characterized by distinctive facial features, short stature, and abnormalities in the bones, joints, and eyes.

The syndrome is named after the two physicians who first described it: Dr. George Weill and Dr. Pierre Marchesani. It is inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for a child to be affected.

Individuals with Weill Marchesani syndrome often have:

• Short stature


• Unusually shaped facial features


• Joint stiffness and limited mobility


• Abnormalities in the bones, such as shortened fingers and toes


• Eye problems, including microspherophakia (abnormally small lenses) and glaucoma

Diagnosis of Weill Marchesani syndrome involves: physical examination, medical history review, and genetic testing. Treatment options focus on managing the symptoms and may include surgery to correct certain skeletal or ocular abnormalities.

While there is no cure for Weill Marchesani syndrome, early intervention and ongoing medical care can help individuals lead fulfilling lives and manage the associated health challenges.