Nager syndrome

Also known as: Acrofacial Dysostosis


Nager syndrome is a rare genetic condition that affects the development of the face, hands, and arms. Children may have malar hypoplasia (underdeveloped cheek bones), micrognathia (small jaw) and a cleft palate as well as eye problems like coloboma. Nager syndrome causes small/unusually formed ears, and associated hearing loss. Feeding and breathing problems are common. It is also associated with bone abnormalities in the hands and arms, such as malformed or absent thumbs, fused fingers and short forearms. Nager syndrome is caused by faults in a gene called SF3B4, which is an important part of the protein making machinery inside cells. The condition is usually diagnosed based on common features being present. Management of Nager syndrome includes feeding via a tube into the stomach (gastrostomy), and babies may need to have a tracheotomy (surgical opening into the windpipe) to aid breathing. If jaw movement is restricted, an operation to release it may be needed. Nager syndrome usually occurs sporadically (with no family history), but can be inherited. Affected families should be referred to a genetics service for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.


Medical text approved January 2012 by Dr Adam Shaw, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Nager syndrome in the UK. A support group outside of the UK exists for Nager syndrome – please ring our helpline for details.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

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