Pediatric Jarcho-Levin Syndrome

Pediatric Jarcho-Levin Syndrome

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Summary

Jarcho-Levin syndrome is a rare, genetic condition in which the ribs and spine develop abnormally, leading to a short torso and neck. Children with this condition can be prone to respiratory infections because of the reduced size of their chest.

Expanded Overview

Children with Jarcho-Levin syndrome have a shortened torso because ribs can be fused or missing. The vertebrae in the spine may also be misshapen, which can cause a short neck.

Because of their shorter neck and smaller torso, children with this condition are also short in stature, but have arms and legs that are normal sized. This is called “short trunk dwarfism.”

Several other names are used when diagnosing this condition, including:

  • Costovertebral segmentation anomalies
  • Spondylocostal dysplasia
  • Spondylothoracic dysplasia
  • Spondylocostal dysostosis
  • Spondylothoracic dysostosis


Because of the reduced size of their chest, children with this condition can develop respiratory problems. The size of the rib cage may not be sufficient to support growing lungs.

The condition can also lead to hernias (tissue bulging). When the diaphragm (the muscle between the lungs and abdomen) presses into the abdomen because of the confined space, it can cause hernias. The added pressure can also cause hernias in the lower abdomen or belly button.

Causes

A genetic mutation causes Jarcho-Levin syndrome. It’s an inherited, congenital (present at birth) condition and occurs when both parents have a recessive (not dominant) gene for the syndrome. It is more common among children of Puerto Rican ancestry than other ethnic groups.

Symptoms

Symptoms of Jarcho-Levin syndrome include:

  • Abnormal vertebrae
  • Measure short in stature
  • Missing, misshapen ribs
  • Short neck and torso
  • Small chest cavity 

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