Jarcho–Levin syndrome

Jarcho-Levin syndrome (JLS), also known as spondylothoracic dysostosis or spondylocostal dysostosis, is a rare, congenital disorder characterized by abnormalities in the vertebrae and ribs. The syndrome is named after the American physicians Saul Jarcho and Paul Levin, who first described the condition in 1938.

Overview

Jarcho-Levin syndrome is a genetic disorder that affects the development of the bones in the spine and the ribs. This results in a short trunk and a "crab-like" appearance of the rib cage due to the malformation and fusion of the ribs and vertebrae. The syndrome is associated with respiratory complications and, in severe cases, can lead to life-threatening respiratory failure in infancy or early childhood.

Causes

Jarcho-Levin syndrome is caused by mutations in the DLL3, MESP2, LFNG, and HES7 genes. These genes are involved in the segmentation of the vertebrae and ribs during embryonic development. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Symptoms

The most common symptoms of Jarcho-Levin syndrome include a short neck, short trunk, and abnormal curvature of the spine (scoliosis or kyphosis). Other symptoms may include protruding chest, difficulty breathing, and frequent respiratory infections.

Diagnosis

Diagnosis of Jarcho-Levin syndrome is based on physical examination, imaging studies such as X-ray or MRI, and genetic testing to identify mutations in the associated genes.

Treatment

There is currently no cure for Jarcho-Levin syndrome. Treatment is symptomatic and supportive, focusing on managing respiratory complications and skeletal abnormalities. This may include respiratory support, physical therapy, and in some cases, surgical intervention to correct spinal deformities.

Prognosis

The prognosis for individuals with Jarcho-Levin syndrome varies. Some individuals may have a normal lifespan with mild symptoms, while others may experience severe respiratory complications leading to early death.

See also

• Congenital disorders
• Genetic disorders
• Spinal deformities
• Respiratory failure

NIH genetic and rare disease info

• NIH info on Jarcho–Levin syndrome

Jarcho–Levin syndrome is a rare disease.

Jarcho–Levin syndrome Resources
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