What is Pierre Robin Sequence?
Pierre Robin sequence is a set of abnormalities in a baby that develops during pregnancy. It is called a sequence because one of its features − an undeveloped lower jaw − starts off a sequence of other malformations while a baby is developing in utero.
When a baby has a lower jaw that is unusually small, the child’s tongue forms further back than normal. When this happens, the tongue can block the baby’s airway causing breathing problems. It can also affect how the roof of the mouth forms, often leading to cleft palate.
Pierre Robin sequence is named for the French dental surgeon who first identified and researched this sequence of conditions. (Robin is pronounced Ro-BAHN.) It is also referred to as PRS, Pierre Robin, Robin sequence, Pierre Robin syndrome, and neonatal tongue-based airway obstruction.
Pierre Robin affects an estimated one in 8,500 to 14,000 people.
Causes of Pierre Robin
The exact cause of Pierre Robin is unknown. Sometimes a change in a gene is found that is linked to the sequence. It is usually not inherited.
Some other syndromes are related with Pierre Robin. This means that if a child has one of these other syndromes, there is a higher likelihood that they might also have Pierre Robin. These include Stickler syndrome and Treacher Collins.
Signs and Symptoms of Pierre Robin
Symptoms of Pierre Robin sequence include:
- Very small jaw and chin (called micrognathia)
- Tongue that is placed further back than normal and falls back into the throat (glossoptosis)
- Glossoptosis leads to loud breathing, snoring and signs of obstructive sleep apnea (OSA), a syndrome where a child has problems breathing while sleeping
- Feeding issues leading to failure to thrive
It is common for a child with Pierre Robin to also have a cleft palate.
Diagnosis of Pierre Robin
Pierre Robin is usually diagnosed shortly after birth. In severe cases, it is sometimes diagnosed during pregnancy.
The diagnosis is most often made when your doctor sees the symptoms described above during an exam. Those findings are confirmed with further testing, which may include:
- CT (computed tomography) scan
- Sleep study
- In some cases an airway evaluation by Otolaryngology / ENT
A genetic evaluation, along with these tests and physical exam, will help to determine the extent of the effects of PRS. Often an eye exam is recommended since nearsightedness is a major feature of Stickler syndrome, one of the syndromes more commonly related with Pierre Robin sequence.
Newborns naturally have a small jaw. That means the sequence can sometimes be missed during an early exam if other symptoms have not yet been noticed.
Treatment of Pierre Robin
At Cincinnati Children’s, a special team in the Cleft and Craniofacial Center cares for babies diagnosed with Pierre Robin. We partner with specialists from other departments to address each of the individual needs of these children. We often coordinate care with members of the following specialties:
- Plastic Surgery
- Otolaryngology / ENT
- Pulmonary Medicine
- Human Genetics
- Dentistry and Orthodontics
- Feeding Team
- OT/PT (Occupational Therapy, Physical Therapy and Therapeutic Recreation)
Treatment for Pierre Robin sequence is based on what is found during the evaluation process. It includes treating airway issues to address sleep issues and breathing problems, and screening for other health concerns. Treatment depends on how severe the conditions are in each child. We tailor our treatment so it is specific to each child.
Treatment options can include one or more of the following approaches:
- Prone positioning, where the baby is placed on their stomach for sleeping
- Nasogastric (NG) tube for feeding
- Surgeries, including distraction surgery to increase the size of the lower jaw
- In severe cases, tracheostomy (making an incision in the windpipe to create an opening for the baby to breathe) and supraglottoplasty (a surgery on the upper airway to help a child breathe more easily)
Because these children start life with a smaller-than-normal jaw, they often need orthodontics in older childhood.
The long-term outlook varies depending on each child and the extent of related conditions and/or other syndromes that your child has. Your child with Pierre Robin will receive expert care at Cincinnati Children’s from a highly experienced team.
One of our main goals in kids with Pierre Robin is to help them maintain a stable airway while avoiding tracheostomy when possible. We also strive to avoid using long-term feeding aids (such as NG tubes) in children who have distraction surgery. Our center has very good outcomes for the full scope of treatment options that we offer.
Some children with a cleft palate may need a secondary jaw surgery when they are older. Children cared for through the Cleft and Craniofacial Center are often followed through their entire childhood and into young adulthood.
Because Pierre Robin sequence involves a number of health conditions, many related health issues can occur. We follow these kids through the course of their life, to address any problems that may come up while they are babies or as they grow.
Related complications can include:
- Sleep issues, including obstructive sleep apnea
- Stickler syndrome, a genetic disorder that often appears in kids who have Pierre Robin
- Breathing problems
- Speech and hearing issues
We have experts in each of these areas to help care for your child should one of these complications arise. Our team approach ensures a full scope of care is offered to children with Pierre Robin sequence.