Cornelia Catharina de Lange

Dutch pediatrician known for identifying Cornelia de Lange syndrome

Cornelia Catharina de Lange (24 June 1871 – 28 January 1950) was a pioneering Dutch pediatrician who is best known for her identification and description of Cornelia de Lange syndrome, a genetic disorder that affects multiple parts of the body. Her work laid the foundation for further research into this condition and contributed significantly to the field of genetics and pediatrics.

Early Life and Education

Cornelia de Lange was born in Alkmaar, Netherlands, on 24 June 1871. She was the daughter of Hendrik de Lange, a prominent lawyer, and Maria Catharina de Lange. From an early age, Cornelia showed a keen interest in the sciences, which led her to pursue a career in medicine.

De Lange attended the University of Amsterdam, where she studied medicine and graduated in 1897. She was one of the few women of her time to enter the medical profession, which was predominantly male-dominated.

Medical Career

After completing her medical degree, Cornelia de Lange began her career as a pediatrician at the Emma Kinderziekenhuis in Amsterdam. Her work focused on the health and development of children, and she quickly gained a reputation for her dedication and expertise.

In 1933, de Lange published a seminal paper describing a group of children with similar physical characteristics and developmental delays. This condition, which would later bear her name, was characterized by distinctive facial features, growth delays, and intellectual disability. Her detailed observations and documentation of these cases were crucial in establishing Cornelia de Lange syndrome as a distinct clinical entity.

Cornelia de Lange Syndrome

Cornelia de Lange

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects many parts of the body. The syndrome is named after Cornelia de Lange, who first described it in 1933. The condition is characterized by distinctive facial features, growth delays, intellectual disability, and limb abnormalities.

The exact cause of CdLS is genetic mutations, often in the NIPBL gene, although mutations in other genes such as SMC1A, SMC3, RAD21, and HDAC8 have also been associated with the syndrome. These genes are involved in the cohesin complex, which plays a critical role in chromosome segregation during cell division.

Legacy and Impact

Cornelia de Lange's work has had a lasting impact on the field of medical genetics and pediatrics. Her identification of the syndrome that bears her name has led to increased awareness and understanding of genetic disorders. The Cornelia de Lange Syndrome Foundation, established in 1981, continues to support research and provide resources for families affected by the condition.

De Lange's contributions to medicine were recognized during her lifetime, and she remains a respected figure in the history of pediatrics. Her dedication to her patients and her pioneering research continue to inspire medical professionals and researchers around the world.

Related Pages

• Pediatrics
• Genetic disorder
• NIPBL
• Cohesin