Type of disease: Rare conditions
Spondylothoracic dysostosis, a condition also known as Jarcho-Levin syndrome, is a genetic disorder of bone development that affects the spinal column and ribs. Infants with Jarcho-Levin syndrome have fused vertebrae and poorly developed ribs, resulting in a chest cavity that has difficulty accommodating growing lungs. It is caused by mutations in the MESP2 gene and is inherited in an autosomal recessive fashion. Spondylothoracic dysostosis can occur in any population, however it occurs most frequently in people of Puerto Rican ancestry. Careful assessment by an expert radiographer is required to distinguish spondylothoracic dysostosis from other similar rare conditions involving vertebral and rib anomalies (e.g., spondylocostal dysostosis, autosomal recessive).Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.