Conditions / Genetic
spondyloepiphyseal dysplasia congenita
info · Genetic
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Signs and symptoms
- Arthralgia
- Hypoplasia of the odontoid process
- Scoliosis
- Barrel-shaped chest
- Hypotonia
- Generalized hypotonia
- Flattened epiphysis
- Flat face
- Limitation of knee mobility
- Lumbar hyperlordosis
Also known as: Late Spondyloepiphyseal Dysplasia