Conditions / Genetic
Kniest dysplasia
info · Genetic
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease with symptoms of large joints, with symptoms of wide set eyes, with sym
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease with symptoms of large joints, with symptoms of wide set eyes, with symptoms of round flat face.
Signs and symptoms
- Tibial bowing
- Rhizomelia
- Dumbbell-shaped femur
- Cleft palate
- Genu varum
- Malar flattening
- Platyspondyly
- Pectus excavatum
- Coronal cleft vertebrae
- Myopia