The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder which can occur to variable severity.
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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