Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

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 nephew has been diagnosed with Jarcho-Levin syndrome. Do you have information on this condition that I could share with my family?

Our Answer

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

How is spondylothoracic dysostosis inherited? 

Spondylothoracic dysostosis is inherited in an autosomal recessive fashion. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected).[1]
Last updated: 4/19/2016

What is spondylothoracic dysostosis?

Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs.[2] 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.[3] 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.[1] It is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner.[2][1][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.[1][2]

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).[2]

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.[1]
Last updated: 6/12/2016

How might spondylothoracic dysostosis be treated? 

There is no cure for spondylothoracic dysostosis. Treatment usually consists of intensive medical care, including early and aggressive treatment of respiratory infections, bone surgery, and orthopedic treatment.[6][7]
Last updated: 4/19/2016

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 7/17/2013

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.