What is Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disabilities, and various physical abnormalities. CdLS is caused by mutations in certain genes that play a crucial role in the development and maintenance of the body.

The most common features of CdLS include:

• Facial characteristics such as thin eyebrows, long eyelashes, and a small upturned nose.


• Growth and developmental delays, including short stature and delayed puberty.


• Intellectual disabilities, ranging from mild to severe.


• Physical abnormalities like limb differences, heart defects, and gastrointestinal issues.

Diagnosis of CdLS is typically based on clinical evaluation, medical history, and genetic testing. While there is no cure for CdLS, treatment focuses on managing the symptoms and improving the quality of life for individuals with the syndrome. This may involve a multidisciplinary approach, including medical interventions, therapy, and educational support.

It is important to note that each individual with CdLS is unique and may experience a varying range of symptoms and challenges.