Pierre Robin Syndrome

Pierre Robin Syndrome is a condition that affects a baby’s mouth. It usually involves a cleft palate and a small lower jaw. Breathing difficulties occur because esophagus and airway blocking by the tongue.

What is Pierre Robin Syndrome?

Pierre Robin syndrome is a condition that affects a baby’s mouth. It usually involves a cleft palate and a small lower jaw. In this syndrome, the tongue is further back in the mouth than normal. When this happens, it can block the esophagus and airway, causing problems with feeding and breathing.

What Causes Pierre Robin Syndrome?

For most babies, there is no known cause of Pierre Robin syndrome. It can start with a small problem early in pregnancy, like slow growth of the jaw. This can cause problems with the palate and tongue. Being pregnant with more than one baby can increase the risk for the condition because there is less room in the womb. This puts pressure on developing babies.

Sometimes, a genetic mutation can cause Pierre Robin syndrome. This happens when a normal gene from the parents is passed down, but the gene mutates (changes) early in the pregnancy. In rare cases, the mutated gene is passed on from a parent.

What are the Signs and Symptoms of Pierre Robin Sydrome?

The main sign of Pierre Robin syndrome is a small jaw. This can be seen on a prenatal ultrasound. If doctors see a small jaw on an ultrasound, they may get an MRI to look for signs of a cleft palate.

How is Pierre Robin Syndrome Diagnosed?

After signs of Pierre Robin syndrome are seen on a prenatal ultrasound and MRI, a physical exam will be done after birth to formally diagnose the condition. 

How is Pierre Robin Syndrome Treated?

Your health care provider will watch your baby’s development with ultrasounds during your pregnancy. After birth, your baby will have an exam and may be referred to a pulmonologist or craniofacial specialist. Many children get better on their own as they grow and the jaw gets bigger.

In mild cases, Pierre Robin syndrome can be managed by placing your baby on their stomach or side to sleep. If your baby has trouble eating, you can feed them in an upright position or use special nipples for bottle feeding. A tube can also be inserted through the nose for feeding or to open the airway. A palatal plate may be placed in your baby’s mouth to keep the tongue from blocking the airway.

In some cases, surgery may be done to enlarge the lower jaw or repair the cleft palate. This can make it easier to eat and breathe.

Possible Problems

Babies with Pierre Robin syndrome have an increased risk of heart conditions. Your baby’s doctor will recommend an echocardiogram (echo). This is a test that looks at the anatomy and blood flow in the heart.

Lifelong Considerations

Babies with breathing and feeding issues that are managed well usually have a good outlook for their future health.

However, if feeding problems are not managed, babies can have poor weight gain and failure to thrive. Breathing problems must be managed or the baby’s brain may not get enough oxygen. This can cause brain damage. Babies with other issues, such as heart conditions, may need long-term care or follow-up.