Cornelia de Lange syndrome is a genetic mutation that leads to a developmental disorder. This condition is characterized by distinct signs and symptoms, which are typically more noticeable in severe cases. However, milder forms of the syndrome often go undiagnosed. Cornelia de Lange syndrome can impact various aspects of an individual’s health, including their physical appearance, skeletal system, cognition, and behavior. Typically, diagnosis of this syndrome occurs during infancy or childhood. To manage the syndrome, individuals may undergo adaptive occupational and physical therapies. While Cornelia de Lange syndrome is not considered life-threatening, there is a possibility of serious complications arising.
Discovery of Cornelia de Lange Syndrome
Cornelia de Lange Syndrome, also known as Brachmann-de Lange syndrome, was first identified and described by Dr. Cornelia de Lange, a Dutch physician, in 1933. Dr. de Lange observed two young girls who exhibited distinct signs and symptoms of the syndrome, including small head circumference, feeding difficulties, and abnormal facial features. These characteristics later became recognized as the defining markers of the syndrome.
It is worth noting that although Dr. de Lange is credited with naming the syndrome, it was actually Dr. W Brachmann who first described a patient with similar characteristics in 1916. However, it was not until later that these characteristics were officially recognized as fitting the criteria for Cornelia de Lange Syndrome. As a result, the syndrome is sometimes referred to as Brachmann-de Lange syndrome in recognition of Dr. Brachmann’s earlier contribution.
Distinct Physical Features of Cornelia de Lange Syndrome
Cornelia de Lange syndrome is often diagnosed based on the unique facial features and skeletal abnormalities observed in individuals with this condition. In severe cases, the physical appearance alone is often enough for a diagnosis. Some of the common physical signs associated with Cornelia de Lange syndrome include: