Pierre Robin syndrome

Definition

Pierre Robin syndrome (also called Pierre Robin complex or sequence) is a condition present at birth marked by a very small lower jaw (micrognathia). The tongue tends to fall back and downward (glossoptosis) and there is cleft soft palate.

Alternative Names

Causes

The specific causes of Pierre Robin syndrome are unknown. It may be part of many genetic syndromes. The lower jaw develops slowly over the first few months of life before birth, but speeds up during the first year after birth. The falling back of the tongue may cause choking episodes and feeding and breathing difficulties, especially when the child sleeps.

Symptoms

• Very small jaw with marked receding chin
• Large-appearing tongue in relation to jaw
• Jaw placed unusually far back in the throat
• High-arched palate
• Cleft soft palate
• Small opening in the roof of the mouth, which causes choking
• Natal teeth (teeth appearing when the baby is born)

Exams and Tests

A physical examination is usually sufficient for your health care provider to diagnose this condition. Consulting with a genetics specialist can rule out other linked problems and syndromes.

Treatment

Infants must be kept face down, which helps the tongue fall forward and keep the airway open. These problems get better over the first few years as the lower jaw grows to a more normal size.

In moderate cases, the patient requires placement of a tube through the nose and into the airway to avoid airway blockage. In severe cases, surgery is needed to prevent upper airway obstruction. A tracheostomy (surgery to make a hole in the windpipe) is sometimes required.

Feeding must be done very carefully to avoid choking and aspiration of liquids into the airway.

Support Groups

For support and information, see www.pierrerobin.org and www.cleftline.org.

Outlook (Prognosis)

Choking and feeding problems may go away spontaneously as the jaw grows. There is a significant risk of problems if the airway is not protected against obstruction.

Possible Complications

• Feeding through a tube may occasionally be necessary to avoid choking
• Difficulty breathing may lead to low blood oxygen and brain damage
• Pulmonary hypertension
• Congestive heart failure
• Death

When to Contact a Medical Professional

This condition is often apparent at birth. Call if choking episodes or breathing problems increase in frequency. Airway blockage may be indicated by a high-pitched, crowing noise when the child inhales (stridor) or blueness of the skin (cyanosis). Also call if other breathing problems occur.

Prevention

Prevention of the syndrome is unknown. Treatment may reduce the number of episodes of breathing problems and choking.

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