Conditions / Genetic
spondylocostal dysostosis 2
info · Genetic
A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1.
Signs and symptoms
- Vertebral segmentation defect
- Disproportionate short-trunk short stature
- Rib fusion
- Hemivertebrae
- Short neck
- Recurrent respiratory infections
- Vertebral clefting
- Restrictive ventilatory defect
Also known as: SCDO2; autosomal recessive spondylocostal dysostosis 2