For healthcare providers: Additional clinical information
Cornelia de Lange Syndrome (CdLS) is a genetic condition that causes a range of physical, cognitive, and medical challenges. CdLS can be caused by one of a group of genes, some of which are more associated with more severe forms and some are more associated with milder forms. It affects both genders equally. CdLS is seen in all races and ethnic backgrounds. About 1 in every 10,000 babies is born with CdLS.
There is a classical form of CdLS and a milder form. Many of the descriptions of physical features and cognitive and behavioral problems refer to the more classical form and may be much milder in the mild form. Because of advances in genetic testing, a child may have been given the diagnosis of CdLS and not have as many of the physical features listed below. The cognitive challenges and behavioral issues may also not be as prominent.
Individuals with CdLS strongly resemble one another, mostly due to characteristic facial features. The resemblance will not be as strong in the more mildly affected individuals. Typical facial features include:
- Thin eyebrows that meet in the middle
- Long eyelashes
- A short upturned nose
- Thin downturned lips
This information was last updated in May 2022.