What Is Jarcho-Levin Syndrome?

posted: 04/13/16
by: Mara Betsch

Last week on "Two in a Million," you met Owen and Giovanni, who have Schwartz Jampel Syndrome, and this week you get to know Tiffany and Yajaira, who are dealing with an equally rare disease.

Tiffany and Yajaira, two women who lead very different lives, share a common bond: Jarcho-Levin Syndrome. Learn all about this rare condition and how these women deal with it every day.

What is Jarcho Levin Syndrome?

"My organs don't have the necessary space they need," says Tiffany, as she describes her rare disease. Also called spondylocostal dysostosis, Jarcho-Levin Syndrome is characterized by skeletal deformities. Most patients have fused or underdeveloped vertebrae and smaller-than-average, malformed, or missing ribs, which, in turn, means that organs in the chest cavity may not develop properly. Children diagnosed with the disease may have serious lung-related issues.

What causes it?

Jarcho Levin Syndrome is a genetic disease, and there are two forms, each caused by a different recessive gene. It occurs with a child inherits the same abnormal gene from each parent. As with most genetic disorders, the risk of two carriers passing the disease along to their child is 25 percent, the chances of having a child that's a carrier is 50 percent, and the chances of having a child that's not affected is 25 percent.

What are the symptoms?

The disorder is usually diagnosed at birth, since patients typically have noticeably shorter torsos and necks, with slightly longer arms. Bones in the spine and ribs are often malformed or fused. Because the neck is typically shorter, patients often have a limited range of motion. Symptoms also include broad foreheads, an enlarged skull, and webbed, elongated, and/or permanently bent fingers.

How rare is it?

About 1 in 40,000 people have it, and 18 cases have been logged in medical literature.

Is there a treatment?

There is no genetic test available for a diagnosis, and there isn't a cure. However, in 2004, the FDA approved the Vertical Expandable Prosthetic Titanium Rib (VEPTR). This device can expand to help straighten the spine and separate the ribs in order to allow room for the lungs of pediatric patients to grow.

If you'd like to learn more about Jarcho-Levin or other rare diseases, the Genetic and Rare Diseases Information Center can help. You can visit their website, call their toll-free number 888-205-2311, or contact them through this form.

Tiffany & Yajaira Have A Very Rare Condition That Will Bring Them Together

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Tiffany, 30, and Yajaira, 27, have Jarcho Levin Syndrome. Can meeting bring friendship and answers to lifelong questions?