Conditions / Musculoskeletal
Ehlers-Danlos syndrome spondylodysplastic type 3
info · Musculoskeletal
An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finel
An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features.
Signs and symptoms
- Hypertelorism
- Depressed nasal bridge
- Webbed neck
- Osteopenia
- Cigarette-paper scars
- Flared metaphysis
- Moderately short stature
- Delayed eruption of teeth
- Broad femoral neck
- Short stature