Jarcho-Levin syndrome

What is Jarcho-Levin syndrome?

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 Jarcho-Levin syndrome, 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.

What are the signs and symptoms of Jarcho-Levin syndrome?

• Abnormal vertebrae

• Measure short in stature

• Missing, misshapen ribs

• Short neck and torso

• Small chest cavity

What are the causes of Jarcho-Levin syndrome?

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.