The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathological entity.
It is primarily characterized by a short neck, short trunk and a constricted thorax (narrow fetal thorax) due to multiple ribs (crab-like or fan-like radiation of the ribs) and vertebral anomalies at all levels of the vertebral column, including:
There are variously described inheritance patterns ranging from autosomal recessive to autosomal dominant.
Treatment and prognosis
The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. Some rare variants with survival into adulthood have also been described.
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