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Infant hard and soft palates

Pierre Robin syndrome

Definition

Pierre Robin syndrome is a condition present at birth in which an infant has a very small lower jaw, a tongue that tends to fall back and downward, and a soft cleft palate.

The syndrome is also called Pierre Robin complex or sequence.

Alternative Names

Robin sequence

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

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

Exams and Tests

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.

Treatment

Infants with this condition should NOT be put on their back, so that the tongue does not fall back into the airway.

Problems associated with this syndrome tend to 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 airways to avoid airways blockage. In severe cases, surgery is needed to prevent upper airways obstruction. A tracheostomy (surgery to make a hole in the windpipe) is sometimes required.

Feeding must be done very carefully to avoid choking and breathing liquids into the airways.

Support Groups

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

Outlook (Prognosis)

Choking and feeding problems may go away on their own as the jaw grows. There is a significant risk of problems if the airways are not protected against blockage.

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 seen at birth.

Call if choking episodes or breathing problems increase in frequency. Airways blockage may cause a high-pitched crowing noise when the child breathes in. It can also lead to blueness of the skin (cyanosis).

Also call if other breathing problems occur.

Prevention

There is no known prevention. Treatment may reduce the number of episodes of breathing problems and choking.

Review Date: 10/24/2007
Reviewed By: James L. Demetroulakos, M.D., F.A.C.S., Department of Otolaryngology, North Shore Medical Center, Salem, MA. Clinical Instructor in Otology and Laryngology, Harvard Medical School. Review provided by VeriMed Healthcare Network.