Pierre Robin Syndrome (Pierre Robin Sequence)

What is Pierre Robin syndrome?

Pierre Robin syndrome (PRS), or Pierre Robin sequence, is a rare birth defect that happens during fetal development. It’s a group of conditions that affect your baby’s jaw and mouth so it may be hard for them to breathe, nurse or feed from a bottle. Most babies receive a diagnosis right after they’re born.

Your baby’s healthcare providers will recommend treatment and things that you can do to help your baby. They may use other names like Pierre Robin malformation when talking about this syndrome.

How common is PRS?

Pierre Robin syndrome is a rare condition. Approximately 1 in every 8,500 people have PRS.

What are the symptoms of Pierre Robin syndrome?

Pierre Robin syndrome causes physical differences that you and your baby’s healthcare team may notice right after your baby is born, including:

• Small lower jaw and chin (micrognathia).
• Cleft palate.
• Tongue that falls back toward their throat (glossoptosis).
• A high-arched palate (roof of the mouth).
• Teeth that are visible at birth (natal teeth).

These physical differences from PRS may cause symptoms like:

• Stridor or stertor (noisy breathing). You may notice your baby’s breathing is noisier when they’re lying flat.
• Not being able to nurse or feed.
• Issues with gaining weight.

What causes Pierre Robin syndrome?

Experts don’t know the exact cause of PRS. Certain genetic mutations that happen during fetal development may change the sequence or order in how a fetus’s facial structure forms. The sequence begins with how the fetus’s jaw develops:

• When a fetus’s jaw doesn’t develop as it should, the issue displaces the fetus’s tongue up and back.
• When a fetus’ tongue isn’t in the right place, it falls back into the upper airway.
• When that happens, a fetus may develop a cleft palate because the roof of the fetus’s mouth can’t close. This is because it’s blocked by the fetus’s tongue.

This sequence of events is why healthcare providers call the condition Pierre Robin sequence.

Can people inherit Pierre Robin syndrome?

Yes, they can. For example, Pierre Robin syndrome may be a complication of Stickler syndrome, which is a genetic condition that affects connective tissues that support and give structure to other organs in your body, primarily in the face, ears, eyes and joints.

What are the complications of Pierre Robin syndrome?

If your baby has a severe form of PRS, issues that block their airway may lead to life-threatening complications, including:

• Congestive heart failure.
• Low blood oxygen (hypoxemia).
• Pulmonary hypertension (a type of high blood pressure).
• Respiratory distress and loss of their airway.

It’s probably scary to think about all the things that could happen. If your baby has a severe form of PRS, it may help to know your baby’s healthcare team is keeping a close watch for complications. They’ll move quickly to diagnose and treat any complications your baby may experience.

How is Pierre Robin syndrome diagnosed?

Often, pediatricians diagnose Pierre Robin syndrome during routine newborn health checks done right after babies are born. But your baby may have a mild form of the syndrome. In that case, your baby’s provider may notice symptoms during the first checkup that happens three to five days after you bring your baby home, or in the next few early checkups.

For example, they may notice your baby isn’t gaining weight or has stridor. In that case, they may do a physical examination to find out why your baby is having issues. If they suspect your baby has Pierre Robin syndrome, their provider will:

• Do a physical examination to look for the three conditions that make up PRS, which are micrognathia, glossoptosis and cleft palate.
• Order a computed tomography (CT) scan to look at your baby’s facial structure.
• Order a sleep study. The condition that makes your baby’s tongue fall back into their airway may cause obstructive sleep apnea (OSA). A sleep study will confirm if your baby has OSA.

How is Pierre Robin syndrome treated?

That depends on your baby’s symptoms. In some cases, babies’ symptoms improve as they get older. For example, your baby’s lower jaw may grow. When that happens, their tongue is less likely to fall back into their airway, so they don’t have breathing issues. If your baby has a mild form of Pierre Robin syndrome, they may not need treatment.

If they have severe PRS, treatment may include:

• Mandibular distraction osteogenesis: This surgery changes the shape of your baby’s jaw, making it longer.
• Tracheostomy: This treatment makes sure your baby can breathe.
• Tongue-lip adhesion: This surgery is less common. It involves connecting your baby’s tongue to their lower lip, so the tongue doesn’t fall back into their airway. It’s temporary. When your baby’s lower jaw gets bigger, their surgeon will remove the sutures.

What can I expect if my baby has Pierre Robin syndrome?

If your baby has a severe form of the condition, they may need surgery and other treatment early on to help them breathe, drink and eat. They may need ongoing medical care and support. In general, treatment eases babies’ symptoms so they don’t have long-term issues. With treatment, most babies with Pierre Robin syndrome live as long as babies who don’t have the condition.

Is there a cure for this condition?

There’s no cure for Pierre Robin syndrome. It’s a congenital condition that’s present at birth. It happens during fetal development. But there are treatments to manage its symptoms.

How do I take care of my baby?

If your baby has a mild form of Pierre Robin syndrome, you’ll need to follow their pediatrician’s advice about sleeping positions and ways to feed your baby.

Babies with moderate or severe symptoms may need ongoing support and medical care, including surgery.

Your baby’s healthcare team knows it can be scary and overwhelming when your child has serious medical issues. They’ll be there for your baby and for you. They’ll:

• Recommend ways to ease your baby’s symptoms, including surgery and other treatments. They’ll explain each treatment, so you feel confident about making decisions about your baby’s health.
• Explain how to take care of your baby at home. There will be a lot for you to take in. Your baby’s team knows that. They’ll take time to answer your questions. Don’t hesitate to ask if you need more information.
• Suggest programs and services that may help you and your baby. For example, they may know of support groups for parents of babies with PRS. It may help to spend time with someone who knows what you and your baby are going through.

When should my baby see their healthcare provider?

Your baby will have regular checkups depending on their symptoms. But you should contact their provider if your baby’s symptoms seem to be getting worse.

What questions should I ask my baby’s pediatrician?

Pierre Robin syndrome is rare, and you may not know much about the condition. Learning as much as you can about it will help you feel confident when you make decisions about your baby’s medical care. Here are some questions you may want to ask:

• How severe is my baby’s condition?
• Does my baby have any other disorders or syndromes in addition to PRS?
• Do you recommend surgery?

A note from Cleveland Clinic

You may learn your baby has Pierre Robin syndrome right after they’re born. Or you may notice your baby has trouble nursing, and tests show they have the syndrome. Either way, you may feel stunned and scared to learn your little one has a serious medical condition. The diagnosis is life-changing for your baby, you and your family. Your baby’s healthcare team understands how Pierre Robin syndrome can upend daily life. They’ll be there for you as you work through what your baby’s diagnosis means now and for their future.