Weill-Marchesani Syndrome

Definition

Weill-Marchesani syndrome is a rare syndrome characterized by short stature, microspherophakia and limited joint movement.

Symptoms

  • Short stature
  • Microspherophakia
  • Limited joint movement
  • Glaucoma

Reasons

ADAMTS10, FBN1 gene mutations.

Diagnosis

Clinical findings, genetic testing.

Treatment

Ophthalmological follow-up.

Which Polyclinic Should You Apply To?

Genetics Polyclinic

What to Do in an Emergency?

In case of acute glaucoma crisis, emergency services should be consulted.

This page is for general information purposes only.