Weill-Marchesani syndrome
ORPHA:3449· ICD-10 Q87.0
Definition
A rare connective tissue disorder characterized by acromelic short stature, joint stiffness, stiff and thick skin, and characteristic eye abnormalities including microspherophakia, ectopia lentis, severe myopia, and glaucoma.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal