It is believed that in 1916 a German doctor named Brachmann first identified a patient with symptoms of a disease later known as Cornelia de Lange syndrome.
Then in 1933, Dr. Cornelia de Lange, a Dutch Professor of Pediatrics, described two children with the syndrome in her original paper. Although the girls were unrelated, most people assumed that they were sisters due to facial similarities. In fact, the nursing staff and even Dr. de Lange were often confused.
After finding a third patient with the syndrome, Dr. de Lange gave an account of the disorder at a 1941 Neurological Society meeting in Amsterdam.
About Cornelia de Lange Syndrome
The National Institute of Health describes CdLS as a developmental disorder affecting various locations in the body. Although symptoms vary widely, common signs include:
- unique facial characteristics with smaller head and body size;
- Smaller feet and hands;
- Missing fingers or forearms;
- delays in the child’s growth;
- defects in the child’s limbs;
- intellectual disability.
Affected body organs include the genitourinary, neurologic and cardiac body systems. Testing by a geneticist is recommended.
A variation in the NIPBL gene is responsible for approximately sixty percent of CdLS cases. The genetic cause of CdLS remains unknown in about thirty percent of cases. The disorder may be inherited in an autosomal dominant or X-linked manner.
The disease crosses such a broad range of symptoms that it is also known as CdLS spectrum disorder.
About CdLS Awareness Day
Cornelia de Lange Syndrome Awareness Day will be celebrated this Saturday, May 14th. It has been observed on the second Saturday of May since 1989. The day creates an opportunity for children, families, and their clinicians to join in promoting awareness of the disorder. The CdLS Foundation has a goal of finding and helping each child and family that has been affected by CdLS.
Currently, the Foundation assists 2,500 people diagnosed with CdLS plus 10,000 members of their families as well as 2,500 clinicians.
Among its other ambitious goals, the foundation hopes to ensure early, accurate diagnosis of CdLS, encourage research, and assist people affected by CdLS to make the most informed decisions during their lifetime.
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