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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondylothoracic dysostosis


Other Names for this Disease
  • Spondylothoracic dysplasia
  • Jarcho-Levin syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My son has been diagnosed with Jarcho-Levin syndrome. How can I ensure a long, healthy life for him?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is spondylothoracic dysostosis?

Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs.[1] The term “Jarcho-Levin syndrome” in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis, which has several common features with STD. Also, the term “Jarcho-Levin syndrome” is often used for all radiologic features that include defects of the vertebrae and abnormal rib alignment.[2] Signs and symptoms of STD are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally-fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. It can occur in any population; however, it occurs most frequently in people of Puerto Rican ancestry.[3] It is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner.[1][3][4] Treatment is based on the signs and symptoms present and may include surgery for bone malformations and respiratory support.[4]
Last updated: 6/12/2016

What are the signs and symptoms of spondylothoracic dysostosis?

Signs and symptoms of spondylothoracic dysostosis include spine and vertebral abnormalities, which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs. This combination of features result in a "crab-like" appearance to the rib cage. Although the neck and midsection of individuals with spondylothoracic dysostosis are shortened, the arms and legs grow normally. As such, individuals with spondylothoracic dysostosis have short stature and are said to have short-trunk dwarfism.[3][1]

The spine and rib abnormalities may cause other complications. Infants with this condition are born with a small chest that cannot expand appropriately. This often leads to life-threatening breathing problems. As the lungs expand, the narrow chest forces the muscle that separates the abdomen from the chest cavity (the diaphragm) down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia).[1]

Most individuals with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.[5]

Symptom severity may vary from patient to patient with spondylothoracic dysostosis; however symptoms tend to be the worse for individuals who carry two "E230X" mutations in the MESP2 gene.[3]
Last updated: 6/12/2016

How can I ensure a long, healthy life for my son?

Many infants born with Jarcho-Levin syndrome have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. Treatment usually consists of intensive medical care, including treatment of respiratory infections, bone surgery, and orthopedic treatment.[6]

The prognosis for individuals with Jarcho-Levin syndrome is directly related to respiratory complications.[7] Fortunately, improvements in respiratory technology have increased the odds.[8] Studies have shown that prompt treatment with physiotherapy leads to prolonged survival. In more severe cases, surgical intervention may be indicated to stabilize chest wall or spine deformities. These interventions have also shown promising results.[9]

We recommend working closely with your son's physician in an effort to provide him with the best chance for a long and healthy life.
Last updated: 6/25/2009

References
Other Names for this Disease
  • Spondylothoracic dysplasia
  • Jarcho-Levin syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.