Spondylocostal dysostosis

Spondylocostal dysostosis, also known as Jarcho-Levin syndrome, is a rare, heritable growth disorder of the axial skeleton. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, a shortened thorax, and moderate to severe scoliosis and kyphosis. Affected people typically have a short trunk and neck, with arms that look relatively long, and a slightly protuberant abdomen. Severely affected individuals can develop life-threatening lung complications because the thorax is deformed and restricts breathing. Saul Jarcho and Paul M. Levin at Johns Hopkins University first described the syndrome in 1938. In 1968 David Rimoin and colleagues distinguished two major presentations: spondylocostal dysostosis, with intrinsic rib anomalies such as bifurcation, broadening and fusion in addition to vertebral defects, and the more severe spondylothoracic dysplasia, described as autosomal recessive with a fan-like arrangement of the ribs. Some babies grow up healthy, but many have respiratory insufficiency, and pulmonary restriction may lead to pulmonary hypertension. The atlas gives no medical advice.