Subtypes and characteristics In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family described in their article appeared to be inherited in an autosomal dominant fashion and had a less severe course than that reported by other investigators. They specified their condition as<unk>  dysplasia, which has since become known as<unk> . The subtype of Jarcho-Levin with which they contrasted their reported cases to is now known as spondylothoracic dysplasia. Spondylothoracic dysplasia Spondylothoracic dysplasia, or STD, has been repeatedly described as an autosomal recessively inherited condition that results in a characteristic fan-like configuration of the ribs with minimal intrinsic rib anomalies. Infants born with this condition typically died early in life due to recurrent respiratory infections and pneumonia due to their restricted thorax. Recently, a report has documented that actual mortality associated with STD is only about 50%, with many survivors leading healthy, independent lives.<unk>  Characteristic radiograph from child with Jarcho-Levin syndrome,<unk>  subtype In contrast to STD, the subtype<unk> , or<unk>  features intrinsic rib anomalies, in addition to vertebral anomalies. Intrinsic rib anomalies include defects such as bifurcation, broadening and fusion that are not directly related to the vertebral anomalies (such as in STD, where extensive posterior rib fusion occurs due to segmentation defects and extreme shortening of the thoracic vertebral column). In both subtypes, the pulmonary restriction may result in pulmonary hypertension, and have other potential cardiac implications.
Spondylocostal dysostosis
Acrofrontofacionasal dysostosis
Spondyloepimetaphyseal dysplasia
Infantile cortical hyperostosis
Cleidocranial dysostosis
Pycnodysostosis
Spondyloepiphyseal dysplasia congenita
Acrodysostosis