Conditions / Genetic
spondylocostal dysostosis 6
info · Genetic
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2.
Signs and symptoms
- Hemivertebrae
- Scoliosis
- Cervical kyphosis
- Butterfly vertebrae
- Spinal canal stenosis
Also known as: SCDO6; autosomal recessive spondylocostal dysostosis 6