Cornelia de Lange syndrome

Cornelia de Lange syndrome, abbreviated CdLS, is a genetic disorder in which people experience a range of physical, cognitive and medical challenges, from mild to severe. Its presentation varies widely from person to person. Typical features include thick or long eyebrows, a small nose, small stature, developmental delay, a long or smooth philtrum, a thin upper lip and a downturned mouth. The syndrome is named after the Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933, and it is also called Brachmann de Lange syndrome, Bushy syndrome and Amsterdam dwarfism. Its exact incidence is unknown, but it is estimated at between 1 in 10,000 and 1 in 30,000 people.