A to Z of syndromes

A-Z of syndromes: Nager syndrome

How to recognise and support children with this rare genetic condition.

Nager syndrome, also known as acrofacial dysostosis, is a rare condition that can affect the development of the face, hands, arms and occasionally more seriously major organs such as the heart and kidneys.

Malformations, such as a cleft lip may develop as a result of Nager syndrome. Picture: iStock

The exact cause is unknown and most cases are sporadic. The evidence suggests there are descriptions of differences in chromosome 9, and other studies have suggested a fault in a single gene. 

Autosomal dominant cases

The severity of this disorder varies among individuals and those with a subtle presentation may parent children who are severely affected. This suggests that some cases could be autosomal dominant (inherited from one parent). 

Individuals have underdevelopment of the mid-face and lower jaw because of the way the branchial arches are formed in the embryo. These branchial are also responsible for midline fusion and so malformations may result in the development of a cleft lip and palate. The syndrome is also associated with craniofacial anomalies including micrognathia – or undersized jaw – which can impair breathing and feeding. There can be sensory impairment, with the absence of the inner ear, plus skeletal anomalies in the joints of the upper arm. 

Males and females are equally affected, it has been described in all races and the intellect is unaffected. 

What you can do

The infant with an unstable airway may require a tracheostomy. Feeding difficulties are long-term so referral to specialist dieticians and a gastrostomy could be considered. If an infant is unlikely to be taking oral feeds an early referral to speech and language therapy can ensure that the child has a care plan. This should include some oral stimulation to avoid developing an oral aversion. 

Those infants with a severe form of the condition may have an unusual appearance and this may attract unwelcome attention. Parents may need considerable support and encouragement to bond with their child, and counselling may assist them in coming to terms with the reactions of others and ensure that they do not become socially isolated.

If there are extensive craniofacial and orthopaedic anomalies then multiple corrective plastic procedures will be required, and the child will be exposed to repeated hospital. The syndromes which effect craniofacial development are rare and complex to manage, but surgery to alter facial appearance can have a good outcome. 

Case study

Chris and Naomi discovered there was a problem at the 18-21-week scan of their first child. The obstetrician told them the baby had a cleft lip and probably palate as well. He said that as far as he could see everything else seemed fine but that the defect was associated with other syndromes.

The midwife provided reassurance that there were options available and there was no need to rush into a decision. She gave them a leaflet about cleft lip and a contact at Antenatal Results and Choices and offered a referral to the regional cleft lip and palate team (CLAPT).  

At the follow up appointment Chris and Naomi said they did not want amniocentesis, because of the risk of miscarriage. They asked to see the liaison nurse from the CLAPT who showed them some ‘before and after’ pictures of cleft lip and suggested a plan of care following birth which would include help with feeding and assessment including hearing tests.

At three to six months, surgery would be undertaken to repair the lip defect. This would be followed by surgery at six to 12 months to repair the cleft palate, if there was one. Ongoing assessments of speech would be made at 18 months, three years and five years. Other interventions would depend on how the child was developing, but it is common for a bone graft to be required to augment the cleft in the gum area. Some children also need orthodontic treatment. 


Further information

Doreen Crawford is nurse adviser with consultancy Crawford McKenzie and Annette Dearmun is divisional head of nursing and clinical governance, Oxford University Hospitals NHS Trust. Both are consultant editors of Nursing Children and Young People

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