Pierre Robin Syndrome

What is Pierre Robin syndrome?

Pierre Robin syndrome (PRS) — also called Pierre Robin sequence — is a condition in which your baby has a small jaw (micrognathia), a tongue that falls back toward the throat (glossoptosis) and upper airway obstruction. Infants with the condition also commonly have an opening in the roof of the mouth (cleft palate).

Who does Pierre Robin syndrome affect?

Pierre Robin syndrome is a congenital condition, meaning that it’s present at birth. PRS may occur alone or it may occur alongside a number of other conditions, including Stickler syndrome.

How common is Pierre Robin syndrome?

Pierre Robin syndrome is rare, occurring in approximately 1 out of every 8,500 to 14,000 people. The condition affects people of all genders equally.

What is the difference between Treacher Collins and Pierre Robin syndrome?

Both Treacher Collins syndrome and Pierre Robin syndrome result in skeletal abnormalities of the head and face. While Treacher Collins syndrome affects the jaw, chin, ears and cheekbones, Pierre Robin syndrome primarily affects the jaw and oral structures.

What are the symptoms of Pierre Robin syndrome?

Babies with Pierre Robin syndrome exhibit a wide range of symptoms that vary from case to case. Some of the most common symptoms of Pierre Robin syndrome include:

• An underdeveloped jaw and small chin.
• A tongue that's more posteriorly positioned due to the small jaw.
• Snoring and airway obstruction due to a tongue that falls toward the throat.
• A high-arched palate (roof of the mouth).
• An opening in the roof of the mouth (cleft palate).
• Natal teeth (teeth that are visible at birth).
• Dysphagia (difficulty swallowing).
• Temporary hearing loss can be a sign of Pierre Robin syndrome. This is due to fluid buildup behind the ear (middle ear effusion) — a common symptom of cleft palate.

What is the cause of Pierre Robin syndrome?

The exact cause of Pierre Robin syndrome is unknown. However, experts do know the sequence of events in the uterus that leads to the condition. It begins with an underdeveloped jaw, which causes the tongue to be displaced. As a result, a cleft palate may also develop, or the palate may have a high U-shaped appearance.

Is Pierre Robin syndrome hereditary?

Not usually. Pierre Robin syndrome typically occurs in people who have no family history of the condition. Therefore, there is no known hereditary factor, although PRS can be found in syndromic conditions such as Stickler syndrome.

How is Pierre Robin syndrome diagnosed?

Your healthcare provider can diagnose PRS during a physical examination. Genetic testing can also help rule out other related health issues.

How do you fix Pierre Robin syndrome?

Treatment for PRS depends on the severity of the condition. Babies with mild Pierre Robin syndrome may need to sleep on their bellies instead of their backs to prevent the tongue from falling back and blocking the airway. (Be sure to talk with your healthcare provider before placing your baby in alternate sleeping positions.) If your baby has a moderate case of PRS, your healthcare provider may provide high flow air through a nasal tube or may place a tube through the nose and into the airway to allow for easier breathing. Severe cases of PRS require surgery to either create an opening in the airway or move the jaw into a more favorable position. This is called mandibular distraction and can improve feeding and breathing, which may help avoid tracheostomy in severely affected patients.

How can I manage symptoms?

If your baby has been diagnosed with Pierre Robin syndrome, special care and attention must be given during feeding times to prevent liquids from going into the airway. In some cases, your healthcare provider may recommend a feeding tube to avoid choking.

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

The risk of choking may decrease once your child grows older and the lower jaw grows into a more typical size. Until then, the primary goal is keeping the airway clear. If your baby’s airway becomes blocked, several complications can arise, including:

• Breathing difficulties.
• Problems with eating.
• Choking episodes.
• Low blood oxygen (hypoxemia).
• Pulmonary hypertension (a type of high blood pressure).
• Brain damage (due to breathing difficulties).
• Congestive heart failure.
• Death.

Is Pierre Robin life threatening?

Left untreated, Pierre Robin syndrome can be fatal. However, prompt treatment can ease your baby’s symptoms and improve overall quality of life.

When should I see my healthcare provider?

In most cases, infants with Pierre Robin syndrome are evaluated by a medical professional shortly after delivery in the hospital. However, if you suspect that your baby has Pierre Robin syndrome, schedule a consultation with your healthcare provider immediately. Signs to watch for include choking problems, cyanosis (a condition that gives the skin a bluish hue) or high-pitched sounds when your baby breathes in.

What questions should I ask my healthcare provider?

A full understanding of your baby’s condition can help you make informed decisions regarding their health. Here are some questions to ask your healthcare provider:

• How severe is my baby’s condition?
• Does my baby have any other disorders or syndromes in addition to PRS?
• Do you recommend surgery?
• How can I keep my baby’s airway open until they’re ready for surgery?