Pierre Robin syndrome (or sequence) is a condition present at birth, in which the infant has a smaller-than-normal lower jaw, a tongue that falls back in the throat, and difficulty breathing.
Pierre Robin sequence; Pierre Robin complex; Pierre Robin anomaly
Causes, incidence, and risk factors
The exact causes of Pierre Robin syndrome are unknown. It may be part of many genetic syndromes.
The lower jaw develops slowly before birth, but may speed up during the first year of life.
- Cleft soft palate
- High-arched palate
- Jaw that is very small with small (receding) chin
- Jaw that is far back in the throat
- Repeated ear infections
- Small opening in the roof of the mouth, which may cause choking or regurgitation of liquids through the nose
- Teeth that appear when the baby is born (
- Tongue that is large compared to the jaw
Signs and tests
A health care provider can usually diagnose this condition during a physical exam. Consulting with a genetic specialist can rule out other problems linked to this syndrome.
Infants with this condition should NOT be put on their back, to prevent the tongue from falling back into the airway.
In moderate cases, the patient will need to have a tube placed through the nose and into the airways to avoid airway blockage. In severe cases, surgery is needed to prevent a blockage in the upper airway. Some patients need surgery to make a hole in the windpipe (tracheostomy).
Feeding must be done very carefully to avoid choking and breathing liquids into the airways. The child may need to be fed through a tube sometimes to prevent choking.
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Choking and feeding problems may go away on their own over the first few years as the lower jaw grows to a more normal size. There is a significant risk of problems if the airways are not protected against blockage.
- Breathing difficulties, especially when the child sleeps
- Choking episodes
- Congestive heart failure
- Feeding difficulties
- Low blood oxygen and brain damage (due to difficulty breathing)
- Pulmonary hypertension
Calling your health care provider
This condition is often seen at birth.
Call your health care provider if your child has choking episodes or breathing problems. A blockage of the airways may cause a high-pitched noise when the child breathes in. It can also lead to blueness of the skin (cyanosis).
Also call if your child has other breathing problems.
There is no known prevention. Treatment may reduce the episodes of breathing problems and choking.