Spondylothoracic Dysostosis

Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs. The term “Jarcho-Levin syndrome” in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis, which has several common features with STD. Also, the term “Jarcho-Levin syndrome” is often used for all radiologic features that include defects of the vertebrae and abnormal rib alignment. Signs and symptoms of STD are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally-fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. It can occur in any population; however, it occurs most frequently in people of Puerto Rican ancestry. It is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present and may include surgery for bone malformations and respiratory support.