Anne Mauldin

University of Missouri

Cornelia de Lange Syndrome

"We all have disorders, just some have more than others."
- Dr. Dale Dorsett

Cornelia de Lange Syndrome is a small mutation in the chromosomes that affects development. The mutation affects 1 in every 10,000-30,000. The people with this syndrome all randomly had the same chromosome mutate before they were even born. These individuals all look like they might be related. Diagnosis of the syndrome includes facial features such as synophrys (eyebrows that often meet at the midline), long eyelashes, short upturned nose, thin downturned lips, low-set ears, and high-arched palate or cleft palate. The following are also common: small hands and feet, partial joining of the second and third toes, proximally placed thumbs, and upper limb abnormalities, including missing fingers, hands, or forearms. The smallest change in function (about 20% according to Dr. Dorsett of St. Louis University) can make the difference between a normal person and someone with the syndrome.