Babies with Pierre Robin syndrome are born with malformations of the jaw and tongue that can cause breathing and feeding problems. With available treatments, most children have a typical life expectancy.
Pierre Robin syndrome or sequence (PRS) is a relatively rare set of symptoms present at birth that affect the structure of a baby’s jaw, mouth, and tongue. Doctors estimate that PRS occurs in about
All babies with PRS have structural differences in their jaw and mouth, but there’s a wide range of symptom severity.
Sometimes, PRS only involves jaw and mouth problems. This is called isolated PRS.
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Babies with PRS are born with certain noticeable facial, jaw, and mouth features, like:
- small lower jaw and chin (micrognathia)
- tongue position that tends to block the throat (glossoptosis)
- cleft palate, high-arched palate, or both
- teeth that are visible at birth (natal teeth)
Because of these features, babies with PRS experience upper airway obstruction.
You might notice your baby has noisy breathing, especially when lying flat or sleeping. Or your baby might have difficulty latching and feeding, causing difficulty gaining weight. Rarely, airway obstruction can cause additional heart and lung problems.
PRS can range from mild to severe. In severe cases, symptoms may be obvious before or immediately at birth and can require urgent intervention. But milder cases may not receive a formal diagnosis right away.
Sometimes, doctors can diagnose PRS on prenatal ultrasounds. Doctors may see a small jaw, a cleft palate, or changes in your amniotic fluid level due to your baby’s trouble swallowing. In this case, a doctor may offer you amniocentesis and genetic testing to look for syndromes associated with PRS.
Doctors often diagnose PRS shortly after birth when they notice classic facial features and observe troubles with breathing or feeding.
Your doctors might measure your baby’s oxygen levels or request a sleep study (polysomnography) when they suspect a diagnosis of PRS.
They may also refer you to a pediatric otolaryngologist (ENT) for more tests, including scoping procedures to examine the airway or medical imaging such as CT scans.
Not all cases of PRS are the same. If your baby has very mild PRS, they may not need any treatment beyond special positioning instructions for feeding and sleeping.
Your doctor may recommend a nasopharyngeal airway tube or CPAP to help with breathing as your child grows.
Some babies have more severe symptoms and may require medical interventions shortly after birth, such as breathing or feeding tubes.
In the long term, surgery can be helpful for babies with more severe PRS. Your doctor will work with you to help decide whether these procedures might benefit your baby:
- Tongue-lip adhesion: This temporary procedure helps prevent your baby’s tongue from falling back and blocking the airway.
- Tracheostomy: A tracheostomy allows your baby to breathe safely through a surgical stoma, or hole, in the front of the neck.
- Gastrostomy: A gastrostomy permits safe feeding directly into the stomach.
- Cleft palate repair: This surgery involves reconstructing the roof of the mouth.
- Mandibular distraction osteogenesis (MDO): MDO surgery reshapes and lengthens your baby’s lower jaw.
The outlook is excellent for many babies with PRS, particularly isolated PRS. Recently, reports of overall survival have been as high as 95%.
Most babies with PRS will still require some treatment, especially to help with breathing and feeding issues in early infancy. Often, babies will be hospitalized for the first weeks of life.
One recent large European study found that 67.6% of babies with PRS required surgery in the first year of life, and nearly all had some surgical intervention by 5 years old.
The presence of additional congenital differences can affect outlook, however. Complications are more common in babies who have PRS along with congenital heart or neurologic disease, or issues with two or more organ systems. Previous research has found mortality rates of up to 15% in babies with syndromic PRS.
Pierre Robin syndrome is now called “Pierre Robin sequence.” This is because the initial problem — micrognathia (underdevelopment of the lower jaw) — occurs early in fetal development. Micrognathia then sets off a sequential chain of developmental issues of the tongue, palate, and airway.
Doctors have different theories about what causes the initial micrognathia, but genetics are likely a trigger.
Syndromic PRS develops alongside other developmental issues as part of another genetic condition. The most common genetic syndromes associated with PRS include:
- Stickler syndrome
- velocardiofacial syndrome
- Treacher Collins syndrome
For most babies born with PRS, there are no known risk factors before birth. Isolated PRS is not usually inherited.
Identified risk factors for PRS include:
- pregnancy with more than one baby
- family history of one or more genetic syndromes associated with PRS
- known mutations affecting certain genes on chromosome 17, such as SOX9 or KCNJ2
What is the life expectancy of someone born with Pierre Robin syndrome?
With treatment, most children with PRS will have a typical life expectancy. One recent study reported 95% overall survival at 10 years of age.
The presence of other genetic syndromes associated with PRS may affect your baby’s outlook.
Does Pierre Robin syndrome go away?
There’s no cure for PRS, but babies with extremely mild forms of isolated PRS may improve on their own. For example, as their jaw grows, breathing problems might get better.
For many other babies, surgery can correct anomalies of the jaw, tongue, and palate.
A doctor can help you understand your child’s likely outcome based on your individual circumstances.
Does Pierre Robin syndrome affect the brain?
Isolated PRS does not involve the brain. Babies born with isolated PRS usually have typical intelligence.
But many babies with PRS will have an associated genetic syndrome. Some of these disorders, such as velocardiofacial syndrome or trisomy 18, can also affect neurological development.
PRS is a rare set of structural changes present at birth that include an underdeveloped lower jaw, abnormally positioned tongue, and often cleft palate. In newborns, these structural changes result in airway obstruction and feeding difficulties.
PRS can be an isolated problem. In this case, the outlook is quite good, although babies may require medical intervention and corrective surgery early in life.
PRS can also develop in association with a genetic syndrome. In syndromic PRS, additional problems may be present, which could affect your baby’s outlook.
Depending on symptom severity, newborns may need to spend their first weeks in the hospital. But medical and surgical treatment is available to help your child breathe, eat, and develop safely.
If a doctor diagnoses your child with PRS, a multidisciplinary pediatric team can help develop a care plan for your family, including parent and community supports.