Conditions / Musculoskeletal
brachydactyly type E1
info · Musculoskeletal
A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
Signs and symptoms
- Moderately short stature
- Type E brachydactyly
- Brachydactyly
- Multiple impacted teeth
- Short metacarpal
- Straight clavicle
- Round face
- Short clavicles
- Short metatarsal
Also known as: BDE1