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What is Pierre Robin Syndrome & Micrognathia Symptoms & Causes

A common birth defect found in more and more children is Pierre Robin Syndrome.

What is Pierre Robin Syndrome?

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 is also associated with micrognathia.

What is Micrognathia?

Micrognathia is a smaller than normal jaw, often the lower jaw or chin. This may be part of a syndrome. A syndrome is a pattern of multiple anomalies or birth defects with a single cause. This single cause can be genetic or hereditary. The birth defects seen in a syndrome involve more than one body system, meaning, for example there may be a problem with the jaw, heart and the kidneys.

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 speeds up during the first year of life.

Pierre Robin Syndrome & Micrognathia

A health care provider can usually diagnose this condition during a physical exam. Consulting with a genetics specialist can rule out other problems linked to this syndrome.

According to Medline Plus symptoms of Pierre Robin Syndrome include:

  • 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 causes choking
  • Teeth that appear when the baby is born (natal teeth)
  • Tongue that is large compared to the jaw

The PubMed Journal recommends:

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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