Jarcho-Levin syndrome, or spondylothoracic dysostosis, is a rare genetic disorder.
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Terminology
Previously, spondylocostal dysostosis was considered part of the Jarcho-Levin syndrome spectrum.
Epidemiology
The exact prevalence of this disease is unknown.
Clinical presentation
It is primarily characterized by a short neck, short trunk, and a constricted thorax (narrow fetal thorax).
Pathology
Genetics
Jarcho-Levin syndrome may be autosomal recessive or autosomal dominant. It is caused by mutation in one of at least five different genes, namely the DLL3, MESP2, LFNG, HES7 and TBX6 genes.
Radiographic features
Ribs may be fused together, misaligned, broadened, split or missing. There may be crab-like or fan-like radiation of the ribs.
Vertebral anomalies at all levels of the vertebral column, including:
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.
Complications
thoracic insufficiency syndrome
repeated respiratory infection
pulmonary hypertension
Differential diagnosis
Considerations include