Jarcho-Levin syndrome

Last revised by Rohit Sharma on 14 Apr 2024

Jarcho-Levin syndrome, or spondylothoracic dysostosis, is a rare genetic disorder.

Previously, spondylocostal dysostosis was considered part of the Jarcho-Levin syndrome spectrum.

The exact prevalence of this disease is unknown.

It is primarily characterized by a short neck, short trunk, and a constricted thorax (narrow fetal thorax).

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.

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: 

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.

  • thoracic insufficiency syndrome

  • repeated respiratory infection

  • pulmonary hypertension

Considerations include

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