vitalwiki

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

ORPHA:2084· ICD-10 Q87.1

Definition

A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
All ages