Spondylocostal dysostosis

Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder.

Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1.

Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis.

They specified their condition as spondylocostal dysplasia, which has since become known as spondylocostal dysostosis.

Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2.

The syndromes currently recognized as subtypes of Jarcho-Levin are termed spondylothoracic dysplasia and spondylocostal dysostosis.

In contrast to STD, the subtype spondylocostal dysostosis, or SCD features intrinsic rib anomalies, in addition to vertebral anomalies.

There are apparently two forms of Jarcho-Levin Syndrome that are inherited as autosomal recessive genetic traits and termed spondylocostal dysostosis type 1 (SCDO1) and spondylocostal dyostosis type 2 (SCDO2).