Jarcho-Levin syndrome

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

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: 

• butterfly vertebrae

• hemivertebrae

• fused vertebrae

• hypoplastic vertebrae

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

• spondylothoracic dysplasia

• Allagile syndrome

• camptomelic dysplasia

• VACTERL syndrome

• Cassamasima-Morton-Nance syndrome