Cornelia de Lange syndrome: Year of the Zebra

Every piece of a puzzle has a specific form and function. One changed piece can affect the whole, even if this piece is one of many. Similarly, changes in one of many genes can affect the whole of the body, in form and function. Cornelia de Lange Syndrome is a rare genetic disorder that occurs in approximately one in every 10,000 live births. About seven genes have been found to be associated with this condition that can cause delays in physical development, a distinctive facial appearance, malformations of the upper limbs, and mild to severe intellectual disability. Some affected individuals may have hearing loss, heart defects, and an increased susceptibility to respiratory infections. Most children are diagnosed clinically after birth or in childhood and molecular genetic testing for mutations is available to confirm the diagnosis. Treatments vary depending on each child’s set of symptoms and their severity but in all cases early intervention is important in ensuring that children with Cornelia de Lange Syndrome reach their highest potential. To learn more about Cornelia de Lange Syndrome, watch the dedicated Osmosis video on YouTube and Osmosis.org