Pierre Robin Syndrome

Also called: Pierre Robin Sequence, Robin Sequence, Pierre Robin Malformation

What Is Pierre Robin Syndrome?

Babies born with Pierre Robin syndrome have a jaw that's smaller than normal. The condition is sometimes called Pierre Robin “sequence” because one problem creates others: A jaw that’s too small can push the tongue farther back in the mouth than usual. That blocks the baby’s airway, causing breathing trouble.

Babies with Pierre Robin (pyer roe-BAHN) syndrome may also have a cleft palate because the roof of the mouth didn’t form completely.

These babies need special treatment to keep the airway open, help with feeding, and prevent serious problems. 

What Are the Signs & Symptoms of Pierre Robin Syndrome?

A baby born with Pierre Robin syndrome (or PRS, for short) usually has:

• trouble breathing
• loud or noisy breathing
• feeding problems
• slow weight gain (doctors call this “failure to thrive”)
• ear infections
• hearing problems

PRS might show up as part of another condition that affects how the face and jaw form, such as Stickler syndrome, 22q11.2 deletion syndrome, or Treacher-Collins syndrome. When this happens, doctors call it syndromic PRS.

How Is Pierre Robin Syndrome Diagnosed?

Doctors usually diagnose PRS right after a baby is born because they notice a small jaw and breathing problems. Sometimes doctors diagnose PRS after parents notice symptoms and take their baby to get checked.

The doctor will ask questions, do an exam, and order some tests. If a doctor thinks a baby has PRS, the family will need to see a specialist. The specialist will work with a team of health care providers experienced in treating children with PRS.

The team may do other tests, including:

• using a tiny camera to look at the baby’s airway and its branches, the voice box, and the back of the baby’s nose and mouth 
• measuring oxygen levels in the blood
• blood tests and breathing tests
• imaging tests, like computed tomography (CT), magnetic resonance imaging (MRI), ultrasound scans, and X-rays
• a sleep study and feeding study
• genetic tests

How Is Pierre Robin Syndrome Treated?

A medical team cares for babies with PRS, usually in the hospital. The team may include NICU doctors, surgeons, dietitians, and speech-language therapists to help with feeding and nutrition. Specialists like pulmonologists and otolaryngologists (ENTs) also might be part of a baby’s care team to treat breathing and swallowing problems.

Protecting the Airway

When PRS is suspected in a newborn baby, the treatment team’s most important job is to protect the airway. Placing the baby on their belly, which is known as the prone position, can help bring the tongue forward and make breathing easier.

For babies with a milder case of PRS, prone positioning may be all that is needed to protect the airway while the baby continues to grow. In more severe cases or when a syndrome is suspected, prone positioning may not be enough to help the baby breathe safely and comfortably. In these cases, plastic surgeons, oromaxillofacial surgeons, or ENT surgeons might need to do surgery to help the baby breathe.

Surgery to protect the airway in babies with PRS include tongue-lip adhesion, mandibular distraction, or tracheostomy:

• Tongue-lip adhesion is where a surgeon temporarily sews the underside of the tongue to the inside of the lower lip. This can help keep the tongue forward and out of the airway. 
• Mandibular distraction is when the surgeon makes precise cuts in the jawbone that allow the small jaw to be brought forward slowly over time. This forward movement of the jawbone also brings the tongue forward and makes breathing easier. 
• Tracheostomy, where a small opening is made directly into the trachea (windpipe) to help the baby breathe, might be needed for babies with PRS who aren't good candidates for tongue-lip adhesion or mandibular distraction surgeries. 

Helping With Feeding

Babies with PRS are at high risk for feeding problems. While most babies feed well with their head slightly raised, babies with PRS may require feeding in the fully upright or side-lying position to prevent their tongue from falling back and blocking the airway. If bottle feeding, it's important to make sure the nipple is placed on top of the baby’s tongue, not bumping into the underside of the tongue and pushing it back.

Babies with PRS who also have a cleft palate can't breastfeed because they won't be able to suck well. They must be fed using a special bottle to feed well and gain weight properly.

The treatment team will follow the baby's growth and weight gain closely. Poor weight gain over time can be a sign that a baby with PRS needs a surgery to improve the airway.

Babies With a Cleft Palate

Babies born with a cleft palate need surgery to repair it. If a baby’s airway has already been fully corrected with mandibular distraction, many surgeons will do this surgery when the baby is 10–12 months old. Otherwise, they might wait a few more months to do cleft palate repair so the baby has more time to grow and the airway further improves.

What Causes Pierre Robin Syndrome?

Doctors don’t know what causes PRS, but they think it might be due to a change in a gene during pregnancy, a lack of fluid in the womb, or weak facial muscles. There’s nothing parents can do to prevent it, and nothing they did caused it.

How Can Parents Help?

Try to find a team of providers with experience taking care of babies with PRS. The American Cleft Palate-Craniofacial Association (ACPA) has a list of certified “Cleft Palate” or “Craniofacial” teams.

Talk to your team about:

• A recommended sleep position. Babies with PRS must sleep in a belly-down position, which is different from the usual recommendation to place babies on their back to sleep.
• Using a breathing monitor. Sleeping belly-down increases the risk of sudden infant death syndrome (SIDS), so using a monitor will alert you if your baby has trouble breathing.
• Feeding your baby.Dietitians and speech-language pathologists will give you advice and help you learn how to feed your baby. If your baby has a cleft palate, you’ll use special techniques and bottles until doctors can do surgery. Your feeding specialist team is there to help you feel confident about feeding your baby, so be sure to ask questions and practice with them as much as you need to feel comfortable.
• Getting the help you need. Your child may need different kinds of specialists or therapy as they grow. For example, occupational therapists and speech therapists can work with children to help them learn to talk and feed themselves. Learn what to expect by asking your child’s care team.
• Seeing a geneticist. Sometimes a syndrome shows up as a child gets older. A geneticist can monitor your child as they grow and refer you to other specialists, if needed.
• Taking care of yourself. When your child is diagnosed with a medical problem, it takes time to adjust. Reach out to family and friends you feel close to. Get support from your child’s care team too. Social workers, therapists, and Child Life specialists are there to help parents and siblings adjust, cope, and learn about support resources. Ask for their help!

Most of all, enjoy the special bond you share with your baby. Make time to talk, sing, and play together. When children feel loved and accepted, they learn self-acceptance too.