Syndromes: Cornelia de Lange syndrome
First in a series about conditions with common symptoms that constitute syndromes
Cornelia de Lange syndrome can be characterised by several physical traits, mental health conditions and additional developmental needs. People with Cornelia de Lange syndrome may present with the following physical attributes:
- Distinctive facial features such as highly arched eyebrows.
- A single eyebrow (synophrys).
- Long eyelashes.
- A short nose with nostrils that tilt forward, small teeth with wide spacing and microcephaly.
- Reduced growth.
- Increased body hair.
- Abnormalities that particularly affect the upper limbs (Oliver et al 2009).
Cornelia de Lange syndrome is associated with severe to mild learning disabilities, however diagnoses have been made for people who may not meet the diagnostic criteria for learning disabilities.
Cornelia de Lange syndrome is a rare congenital condition and it is thought that it affects about 1 in 50,000 live births (Hall et al 2008). Cornelia de Lange is caused by an alteration in the structure of at least five known genes, however in 30% of all cases the cause remains unknown (Teresa-Rodrigo et al 2016). It is not considered to be hereditary and cases of families with more than one person with the syndrome are rare.
People with Cornelia de Lange may exhibit behaviours that are perceived as challenging, usually characterised by self-injurious behaviours such as head banging. There is also an association with traits typically associated with autism spectrum conditions (Lanovaz 2014), such as repetitive behaviours, obsessive compulsions and increased anxiety.
There are several health conditions that are also associated with Cornelia de Lange. People with the syndrome may present with the following health needs:
- Gastro-oesophageal reflux disorder.
- Sensory impairment with vision and aural senses possibly affected.
- Cardiac defects characterised by small holes in the dividing chambers of the heart.
- It is common for males to experience malformation of the genitals and underdevelopment of the testes (Oliver et al 2009).
There are several signs and symptoms that are identifiable from birth, but not all people will exhibit the full range of diagnostic symptoms. It is important that all information is collated to ensure that a full and accurate diagnosis can be made. This may include genetic testing.
Treatment and support
Due to the varied presentations and the systems that may be affected, treatment must be based on the needs and presentations of the individual and their support networks. Ongoing support may be required from a full multi-agency team to address properly the full range of health and social care needs that a person may have.
Gary* lived at home with his mother, father and younger sibling and attended a local special educational needs school where he received regular respite care. Gary was diagnosed with Cornelia de Lange syndrome at a young age and went on to receive further diagnoses of gastro-oesophageal reflux disorder, epilepsy that remained poorly controlled despite poly-pharmaceutical intervention, a severe learning disability and considerable difficulty with expressive and receptive communication.
After a difficult transition from school at the age of 18, he began self-harming and could also become aggressive at home. It became apparent that Gary would benefit from a 24-hour support package in his own home. The local authority identified an appropriate house close to his family to maintain these relationships, and a support provider was commissioned to provide the required care.
A period of assessment and intervention from the local community learning disability team was implemented to inform a behavioural support plan, develop communication strategies and support epilepsy management. After this, Gary’s episodes of self-injury and aggression reduced, and he retained full support in a community environment.
*Patient identifiable details have been changed to maintain confidentiality.
Lanovaz M, Rapp J, Maciw I (2014) Assessment and treatment of stereotypy in an individual with Cornelia De Lange syndrome and deafblindness. Journal of Intellectual and Developmental Disability. 39, 4, 375-380.
Teresa-Rodrigo M, Eckhold J, Puisac B et al (2016) Identification and functional characterization of two intronic NIPBL mutations in two patients with Cornelia de Lange syndrome. Biomed Research International. doi.org/10.1155/2016/8742939
Oliver C, Sloneem J, Hall S et al (2009) Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. Journal of Intellectual Disability Research. 53, 7, 575-589.
Hall S, Arron K, Sloneem J et al (2008) Health and sleep problems in Cornelia de Lange syndrome: a case control study. Journal of Intellectual Disability Research. 52, 5, 458-468.
- CdLS Foundation UK & Ireland
- Contact – for families with disabled children
- FIND (Further Inform Neurogenetic Disorders)
- National Institute for Health and Care Excellence evidence
Sam Abdulla is deputy field lead in learning disabilities nursing, Edinburgh Napier University and staff nurse, NHS Lothian