Search

close   X

pierre robin syndrome

what is Pierre Robin syndrome?

Pierre Robin syndrome is a condition that you are born with. It has recently been linked to genetic anomalies at chromosomes 2, 11 or 17. The condition is identified by a smaller lower jaw, a tongue that falls back in the throat and airway obstruction (difficulty breathing). Your child may also have cleft palate. Pierre Robin syndrome is also known as Pierre Robin sequence. The sequence of events starts with the smaller lower jaw, which causes the displacement of the tongue and often cleft palate.  

causes

Pierre Robin syndrome can occur by itself or be a part of another condition, such as Stickler syndrome. If difficulty breathing is not identified and cared for, it may lead to hypoxia (not enough oxygen to supply to other body functions), right heart failure, failure to thrive, and feeding difficulties, in addition to cerebral impairment (brain development).

testing and diagnosis

If Pierre Robin syndrome is suspected, a complete airway assessment will be performed. If there is a problem with the trachea (windpipe), a tracheostomy (surgery that places a tube into the windpipe to help the patient breathe) may be required. A hospital stay and a sleep study (polysomnogram) are helpful in determining how bad the airway obstruction is.

treatment

Treatment of Pierre Robin syndrome will be handled by a team of doctors. The team will focus on breathing and feeding to get your child to grow and develop like a typical child. In a more mild case, care may consist of placing your child in a side or face-down position to allow the tongue to fall forward and relieve the airway. Care may also include placing a tube in the nose to help your child breathe easier. The tube would stay in until your child’s brain is more developed and they have grown enough to bring the tongue into a more favorable position.

Patients who are more severely affected or have abnormal sleep study results may require surgery.

Surgery may include a tongue-lip adhesion, mandibular distraction (make the jaw longer) or tracheostomy.

  • In tongue-lip adhesion, the surgeon will bring the tongue forward and tie it to the inside of the lower lip to help your child breathe and relieve the airway obstruction. If successful, this is released in three to six months.
  • In mandibular distraction, a device is applied to the jaw and a cut is made behind the jaw line. By activating the device, the jaw is gradually brought forward carrying the tongue with it. This procedure improves the airway as new bone forms in the gap.

If neither of these procedures is successful or your child has disease below the base of the tongue, a tracheostomy may be needed.

long-term outlook

As your child grows, it is important to closely monitor the airway, feeding, growth and development. Some children may require a jaw lengthening procedure to address any ongoing issues.