What is Pierre Robin Syndrome?

Pierre Robin syndrome is a genetic abnormality that is usually detected shortly after birth. It is also referred to as Pierre Robin Sequence, or just malformation. Pierre Robin Syndrome is considered a genetic disorder due to the fact that approximately 80 percent of the time it is associated with another genetic syndrome such as Stickler Syndrome or Velocardiofacial Syndrome. It is estimated that this disorder occurs in approximately one in 8,500 births.

Although this genetic disorder is most commonly known as Pierre Robin Syndrome, it is not a syndrome, but is instead a sequence of birth defects. An infant is said to have Pierre Robin Sequence if he exhibits a small lower jaw, a tongue that balls up at the back of the mouth and falls to the back of the throat, breathing problems and sometimes a horseshoe-shaped cleft palate.

There is not one exact cause for Pierre Robin Malformation, as it is often part of an underlying disorder. There are cases though, in which an underlying disorder is not present. In these situations, Pierre Robin Sequence may have occurred due to the position of the fetus during the formation of the bones, which takes place in the first trimester. If the fetus’s mandible becomes stuck in the sternum, where the two collar bones meet, it will prevent the jaw bone from growing. When the fetus begins moving during the second trimester the jaw will become unattached and will resume growing at a normal rate, though it will remain disproportionate to the rest of the facial bones.

Children born with Pierre Robin Sequence often experience feeding problems during infancy, ear infections and hearing problems. Of these complications, the biggest problem is with feeding. Due to the small jaw, the baby cannot form a seal around the breast or bottle nipple. A child born with Pierre Robin Sequence may also have a cleft palate, meaning he cannot form a negative pressure with allows him to suck and withdraw milk from the nipple. This can lead to the child experiencing difficulties with gaining weight.

Fortunately for children born with Pierre Robin Syndrome, there is help available. La Leche League is one of the biggest supporters of parents whose children have this genetic disorder. La Leche League advisors will counsel parents on different devices that can aid in feeding the infant and ensure adequate nutrition. As the child gets older and is able to be spoon-fed, this will no longer be an issue.

Frequent ear infections associated with Pierre Robin Syndrome can often be treated with surgery in which tubes are inserted into the ear canals. This can prevent hearing loss often caused by frequent ear infections. This method of treatment is highly effective and covered by most medical insurance policies.

Parents whose children are born with Pierre Robin Sequence are advised to seek counseling. This disorder is not caused by anything the mother may have done during pregnancy and could not have been prevented. Pierre Robin Syndrome does not tend to run in families, though there is a possibility that any underlying disorders might.