Conditions / Syndrome
Weill-Marchesani syndrome 2
info · Syndrome
A Weill-Marchesani syndrome that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
Signs and symptoms
- Astigmatism
- Short stature
- Short metacarpal
- Iridodonesis
- Short finger
- Depressed glabella
- Delayed skeletal maturation
- Striae distensae
- Lens luxation
- High myopia