Pierre Robin syndrome

Also known as: Pierre Robin Sequence; Robin Anomalad

Overview

Pierre Robin syndrome is a rare condition that can cause micrognathia (a small jaw), glossoptosis – a tendency for the base of the tongue to ball up and fall backwards into the throat causing obstruction, and a cleft palate. All babies with the syndrome have some difficulties with breathing and feeding and this varies in severity. Babies may need special nursing positions, help to suck, with adapted teats. Breast feeding may be difficult and special advice should be sought from a midwife or health visitor.

It is not known why the condition occurs, though it has been suggested that the jaw being compressed while the baby develops may contribute. Diagnosis will usually occur in hospital after birth and surgery used to correct the cleft palate at 6 to 19 months. Some babies require assistance with breathing via a nasal prong or a tracheostomy (opening a direct airway in the trachea or windpipe). Most cases occur sporadically (with no family history), but some cases may be due to Stickler syndrome or another underlying condition. Affected families should be referred to a genetic centre 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.

Credits

Medical text approved December 2012 by Dr Adam Shaw, Contact’s Medical Advisory Panel.

Is there support?

There is no support group for Pierre Robin syndrome in the UK. The Cleft, Lip and Palate Association (CLAPA) may be able to link families (see entry Cleft Lip and/or Palate).

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.