A to Z of syndromes

A-Z of syndromes: Cornelia de Lange syndrome

Part three of our series for students: Cornelia de Lange syndrome. 

Cornelia de Lange syndrome is a congenital condition which has the potential to affect many of a child’s systems. It was named after the Dutch paediatrician who first identified it.

Cornelia de Lange
An indication of Cornelia de Lange syndrome. Photo: Science Photo Library

Like many syndromes there is a trajectory of severity, ranging from relatively mild to severe. It is relatively rare and affects between 1:10,000-1:30,000 infants. 

The condition is genetic in origin and is a result of genes which mutate. There are a number of these which can be considered responsible for the syndrome.

In the majority of cases these would seem to be new mutations as there is no family history of the syndrome. Some researchers consider cases to be the result of X-linked transmission. The condition affects all races, and boys and girls are equally affected.

In situations where an individual is mildly affected the condition results in the birth of a low birth weight infant – who may have difficulty suckling and who do not reach their developmental milestones. The diagnosis may also be made after investigations of global developmental delay.  

Characteristics to look out for

Many infants with this condition have a characteristic weak cry which abates over time. In those who are more severely affected there may be sufficient cause for concern from birth and so the diagnosis is made earlier.

The typical characteristics are: microcephaly, hirsutism, low set ears, small upturned nose and thin lips. The eyelashes are usually very long and the hands and feet small.

Other skeletal anomalies may include missing limb portions, syndactyly (fused digits) and a characteristic hand with an incurved fifth finger. There may be life-threatening cardiac defects and usually the intellect is affected to some degree.

Individuals often display an attention deficit however this may be due to sensory and perception differences as the senses of sight and hearing can also be impaired.

In individuals who are severely affected antenatal ultrasound may detect limb abnormalities or heart defects while in utero. Management of the infant will depend of their individual requirements – some will be admitted to a neonatal unit.

Treatment options

The family will need support and encouragement to parent and bond with the infant. For many families it is the fear of the unknown, and what lies ahead which is more worrying than a definite prognosis. Some assurance that behavioural issues are not inevitable and play therapy, stimulation, tailored education and family therapy can all be used to maximise potential.  

For older children the implications for children’s nurses will depend on the reason for admission, as always the focus should be on the child and family as being in a unique situation, rather than the condition.

Individuals with this condition may have communication difficulties, some children use signing as their preferred communication tool, they usually respond best if the day is well structured and the parents are pivotal in designing the care plan.

Case study

Mustafa was the youngest child of Syrian refugees from Aleppo, his mother provided a history of him being small at birth and not looking like her other children.

He was difficult to feed and slow growing, but because of the conflict he was not diagnosed. When the family relocated to a refugee camp the aid workers just diagnosed him as ‘slow’. The family spent two years in the camp before being given permission to enter the UK. 

Once in the UK, health checks resulted in him being referred to a child development unit and he also had a series of heart scans. His family were given a diagnosis and a plan of care was put in place to support them and help him maximise his potential.

Glasses did improve his vision but the family were disappointed that cochlear implants did not make a dramatic improvement to his hearing. The family were offered genetic counselling which they declined. 

Mustafa learned some Makaton and was able to communicate with people outside the family and was able to make his needs known.


Further resources

Doreen Crawford is senior lecturer in nursing and midwifery at De Montfort University, Leicester and Annette Dearmun is divisional head of governance and nursing (children and women’s division) at Oxford University Hospitals NHS Trust

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