Spondylothoracic Dysostosis (MESP2)
Spondylothoracic dysostosis is an autosomal recessive disorder that is caused by pathogenic variants in the gene MESP2. While it is found in different ethnicities around the world, it is more prevalent in individuals of Puerto Rican descent. Clinically, the disease presents in infancy with a severe shortening of the spine and fusions of the ribs. This results in reduced efficiency and development of the lungs, and causes death in approximately 50% of affected infants. Several specific variants have been associated with more severe disease, and therefore disease severity may be able to be predicted in some patients.
For information about carrier frequency and residual risk, please see the residual risk table.