Cornelia de Lange

Key Facts

It is estimated that between 1 in 10,000 and 1 in 30,000 people in the population have Cornelia de Lange syndrome (CdLS).

Every person with Cornelia de Lange syndrome is a unique individual, but there are some common features of the syndrome which have been identified.

People with CdLS typically have a variation or deletion in one of seven genes: NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11. However, research to fully understand all the genetic causes of the syndrome is still ongoing.

Research indicates that many individuals with Cornelia de Lange syndrome are diagnosed with global developmental delay or intellectual disability. The severity of intellectual disability can vary widely from person to person.

Behaviours that challenge in Cornelia de Lange syndrome can be caused by the presence of painful health conditions. It is important to always consider whether any changes in mood or behaviour may be caused by pain or discomfort. Reflux, middle ear infections, and tooth or sinus problems commonly cause pain in Cornelia de Lange syndrome.

Children and adults with Cornelia de Lange syndrome show higher levels of compulsive-like behaviours in comparison to other genetic syndromes.

Studies have shown that autism characteristics occur in many people with Cornelia de Lange syndrome.

Everyday living skills, such as dressing, washing, and grooming, may be delayed among children with Cornelia de Lange syndrome but some do achieve a degree of independence in this area.

Many individuals with Cornelia de Lange syndrome experience social anxiety and/or can be selectively mute.

Between 50-60% of individuals with Cornelia de Lange syndrome engage in some form of self-injurious behaviour.

Overactivity seen in children and adults with Cornelia de Lange syndrome may be linked to pain and discomfort associated with gastro-intestinal difficulties.