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Pierre Robin Syndrome (Pierre Robin Sequence)

Pierre Robin Syndrome (Pierre Robin Sequence)



Overview

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.

Symptoms

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.

Causes

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.

Complications

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.

Diagnosis

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.

Treatment

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.

Type of Doctor Department : A pediatrician

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