Pierre Robin syndrome factsheet
Introduction
Pierre Robin Syndrome, also known as Pierre Robin Sequence (PRS), is a condition that develops as a baby grows during pregnancy.
It affects the jaw, tongue and airway, causing:
- micrognathia – a small, underdeveloped lower jaw
- glossoptosis – where the tongue is positioned further back in the throat, which can block the airway
- cleft palate – an opening in the roof of the mouth, called the palate - is not always present in PRS.
Doctors do not know what causes PRS.
Many children with PRS do not have any other health complications, but some may have issues with their:
- eyes
- kidneys
- bones
- heart.
Signs and symptoms
PRS can cause breathing and feeding difficulties from birth. In severe cases, a breathing tube may be needed.
Breathing Difficulties
PRS can block the airway, causing:
- noisy breathing, especially when inhaling
- snoring or signs of airway blockage
- retractions – when the chest sucks in with each breath
- a tired or worn-out look from struggling to breathe
- a grey or blue tint around the lips, even when breathing.
If your baby is showing signs of severe breathing problems, call Triple Zero (000) for an ambulance.
Feeding Difficulties
Babies with PRS may have trouble feeding due to their cleft palate and breathing issues.
Signs include:
- taking a long time to feed or not finishing feeds
- difficulty latching onto the breast
- coughing, choking, or arching the back during feeding
- poor weight gain
- reflux – milk or infant formula coming back up through the nose or mouth.
Without treatment, feeding problems can lead to poor nutrition and worsened breathing problems.
Other symptoms
Some babies with PRS may also have:
- repeated ear infections or temporary hearing loss
- natal teeth – teeth that are present at birth.
Diagnosis
Early diagnosis and care are important for managing PRS. Your child’s doctor will do a physical exam to check for signs of:
- micrognathia
- glossoptosis
- cleft palate.
If any of these are found, they may order tests and scans to check how severe the condition is and whether there are any other complications.
Tests and scans may include:
- CT ccan – to get a clear picture of the facial structure and airways
- sleep study – to check for obstructive sleep apnea (OSA)
- airway evaluation – a specialised check of the airways by an Ear, Nose and Throat (ENT) doctor
- genetic testing – to rule out other related health conditions and check whether PRS is part of a bigger syndrome.
Treatment
Treatment for PRS focuses on managing breathing and feeding problems with a combination of non-surgical and surgical options.
A team of healthcare professionals will oversee your child’s treatment, including:
- Craniofacial Surgeons
- Intensivists - specialists in critical care
- ENT Surgeons
- Speech Therapists
- Paediatricians
- Plastic Surgeons.
Breathing issues
Treatment options may include:
- prone positioning: lying your baby on their stomach to help open the airway
- nasopharyngeal airway (NPA) or nasal trumpet: a small tube inserted through the nose to help improve airflow
- surgery: in severe cases, surgery may be needed to enlarge the jaw or create an opening in the windpipe called a tracheostomy.
- tongue-lip adhesion: sometimes, the underside of the tongue is stitched to the lower lip to keep it forward and reduce airway blockage.
Feeding issues
Treatment options may include:
- specialised nipples and bottles: to help babies with latching and swallowing
- feeding tubes: nasogastric (NG) or gastrostomy (G) tubes may be used to ensure your baby gets enough nutrition
- feeding therapy: a feeding therapist can teach you the best feeding positions and techniques to help your baby.
Other treatments
Other treatment options may include:
- cleft palate repair: surgery to close a cleft palate is usually done when your baby is 10-18 months old
- speech therapy: some children may need speech therapy, especially after cleft palate surgery
- dental monitoring: children with PRS may need orthodontic care to manage dental issues due to a small jaw.
Management
Long term care
Ongoing care is essential for children with PRS as they grow. Important areas to monitor include:
- breathing: regular follow-ups with specialists are needed to track improvements
- cleft palate care: if your child has a cleft palate, regular consultations with the cleft team will be needed before and after surgery
- hearing: regular hearing tests are important, as fluid can build up in the middle ear and cause hearing problems
- eye health: regular eye checks are important to find any issues as your child grows
- dental health: regular monitoring may be needed to check for teeth crowding
- feeding issues: feeding issues should improve as your child grows, but some may need ongoing support
- genetic consultation: if there are any new health concerns or a family history of related conditions, you may need to see a genetic counsellor.
Resources and more information
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