An international team of researchers has discovered the gene for Cornelia de Lang syndrome, a debilitating multisystem genetic disease that affects about one in 10,000 children. The discovery is expected to lead to genetic testing that allows a rapid and definitive diagnosis of the syndrome, as well as prenatal testing for families who already have children with the disease.

Named for the Dutch doctor who first described it in 1933, the syndrome often includes intellectual disabilities, growth disorders, heart defects, gastroesophageal reflux and eating problems, visual impairment, hearing loss, and upper extremity abnormalities including missing fingers or hands. To get detailed information about CdLS, click on

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There are usually prominent facial features, such as thin brows together, long eyelashes, thin lips, and excess body hair. In the past, CdLS was often fatal in infancy; now most children live with this condition into adulthood.

Although CdLS has been known for decades, it poses a challenge to scientists. The disease also varies – some patients have a much milder form of CdLS. Because some people with CdLS have children, it is rare to find parents and children who both have the disease.

The long-term goal of the gene discovery, of course, is to improve clinical treatments for the syndrome. “One cannot predict the exact path science takes from a basic discovery to a practical therapy,” said Dr. Jackson. “However, a better understanding of the specific biological pathways by which a gene mutation affects health and development may lead to new therapies to intervene at different points along the path.”

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