Nager syndrome

Also known as: Acrofacial Dysostosis

In this article

What is Nager syndrome?

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.

What are the symptoms of Nager syndrome?

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.

What are the causes of Nager syndrome?

Nager syndrome is caused by faults in a gene called SF3B4, which is an important part of the protein making machinery inside cells.

How is Nager syndrome diagnosed?

The condition is usually diagnosed based on common features being present.

How is Nager syndrome treated?

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.

Is there support for people affected by Nager syndrome and their families?

If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.

We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.

You can meet other parents online in our closed Facebook group.

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.

Credits

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