February 27th, 2014 | Midway through her pregnancy, Lacey Buchanan got some sobering news: There’s something wrong with your baby. The elation she’d felt just weeks before—it’s a boy!—was now abruptly deflating, like air escaping from a punctured balloon. An ultrasound showed that if her son survived, he would have facial abnormalities,… Continue Reading
Pierre Robin sequence is a condition at birth that involves a very small jaw. Due to the small jaw the tongue can fall backwards towards the throat which can block the airway and cause airway blockage. Most babies with Pierre Robin sequence will also have a cleft palate.
What causes Pierre Robin sequence?
There are many reasons why a baby may be born with a small lower jaw. One cause may be that the jaw does not grow at a normal rate. When the baby is growing before birth, the head is bent down against the chest, and the palate (the roof of the mouth) is still in two pieces that must come together. As the baby grows, the head raises up, the lower jaw drops down and the mouth opens. This lets the tongue drop out of the way, and the two sides of the palate join together. If this does not happen, the palate does not close properly and the baby has an open, or cleft, palate.
Since these things happen one after another (in sequence), this problem was named Pierre Robin sequence. Some doctors think babies do not have Pierre Robin sequence unless they have trouble breathing. However, most doctors think a baby with a small lower jaw and cleft palate has Pierre Robin sequence.
Pierre Robin sequence can be your baby's only problem, or it can be only one part of a group of problems called a syndrome. In some infants with Pierre Robin sequence, there is a problem with growth of bones in the face and the jaw bones are too small. One-half of babies with Pierre Robin sequence have other problems too. One chromosome problem commonly seen in babies with cleft palate is velocardiofacial syndrome. This is caused when a piece of chromosome 22 is missing. A chromosome test may be done to see if your baby has this syndrome.
Another problem seen in babies with Pierre Robin sequence is Stickler syndrome. These babies have a group of findings that occur together including small bones of the face, eye abnormalities, joint problems, and hearing loss. Stickler syndrome is usually caused by mutations (changes) in the collagen gene and is inherited directly from parent to child. It may also occur as a result of new changes in collagen and appear in babies with no other affected persons in the family. Children with Pierre Robin sequence are carefully examined for signs of Stickler syndrome and other genetic conditions.
A geneticist is a type of doctor who can help find out if your baby has such a syndrome. The geneticist may also be able to answer questions about your pregnancy and whether there were other things that could have affected your baby. It is best to find a geneticist who works with a "craniofacial team" (a group of doctors, nurses, and other health care workers who take care of babies with problems such as Pierre Robin sequence).
The Cleft Palate Foundation says about one out of every 2,000 to 30,000 babies has Pierre Robin sequence. The risk of having another baby with Pierre Robin sequence depends on the cause of the problem.
For more information on Pierre Robin Sequence please read this booklet.