Tomorrow, May 12th, is Cornelia de Lange Syndrome Awareness Day! A very rare condition, Cornelia de Lange Syndrome is a complex diagnosis about which much is still being discovered. We thought we would detail some helpful information, to do our part to spread awareness of this developmental syndrome.
In 1933, a Dutch pediatrician named Cornelia Catharina de Lange took on a young patient who was struggling with pneumonia and feeding difficulties. The little girl was small for her age and had very distinct, somewhat atypical facial characteristics.
Not long after, Dr. de Lange took on a second patient with similar health issues, and she noted a similarity in physical features to the first patient. She combed through medical reports, works, and journals in search of an existing study featuring such characteristics in a patient, but she could find nothing similar.
So, she set about the task of researching, describing, and documenting what she had discovered. She called the disorder “typus degenerativus Amstelodamensis,” but the syndrome she studied now bears her name: Cornelia de Lange Syndrome.
However, there was another physician who studied individuals affected by this syndrome. His name was Dr. W. Brachmann, and his work dates to 1916. CdLS is sometimes also called Brachmann-de Lange Syndrome, as his earlier work is now recognized to have pertained to individuals affected by the same syndrome that Dr. de Lange chronicled.
But Dr. Brachmann’s work focused primarily on cases of the syndrome which were severe enough to affect the development of the upper limbs, causing malformations of the fingers, hands, and arms. His work did less to describe other characteristics of the syndrome, such as facial and neurological abnormalities, and developmental delays. This is probably why de Lange did not correlate Brachmann’s work with her own.