Conditions / Syndrome
Weill-Marchesani syndrome 3
info · Syndrome
A Weill-Marchesani syndrome that has_material_basis_in homozygous mutation in the LTBP2 gene on chromosome 14q24.
Signs and symptoms
- Short stature
- Joint stiffness
- Brachydactyly
- Pulmonic stenosis
- Aortic valve stenosis
- Shallow anterior chamber
- Microspherophakia
- Ectopia lentis
- High myopia
- Ocular hypertension