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What are the Main Features of the Syndrome?

Children with Cornelia de Lange Syndrome are usually small at birth, although sometimes their weight can be normal. Children and young adults with this syndrome usually have developmental delays (the terms intellectual disability and learning disability can also be used to describe this delay), but there is wide variation in the extent to which they are affected. Almost all children with this syndrome learn to walk.

Those with a classic form cannot walk until they are five years old, whereas those with a mild form can walk before the age of two. Self-help development may be delayed in people with CdLS, but some achieve a certain level of independence in this area. To learn more about CdLS, visit this website.

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The area of development that is most affected is language and this is often affected by hearing loss. Many children with this syndrome will never learn to speak, but with the right help and encouragement, they will need to learn some words.

Teaching non-verbal communication skills is also important to support verbal language development, such as sign language or image exchange systems. Children with mild forms of the syndrome can learn to speak freely, even though they may be five or six years old before they start talking.

All children with the syndrome can be very similar. Facial features change as children grow. The most distinctive facial features are the eyebrows, nose, and mouth.