Conditions / Syndrome
Weill-Marchesani syndrome 1
info · Syndrome
A Weill-Marchesani syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTS10 gene on chromosome 19p13.
Signs and symptoms
- Brachydactyly
- Short stature
- Microspherophakia
- Joint stiffness
- Ectopia lentis
- High myopia
- Glaucoma
- Narrow palate
- Broad skull
- Broad metacarpals