Pierre Robin syndrome is a genetic abnormality causing birth defects such as a small lower jaw, breathing problems, and a cleft palate. It is often associated with other genetic syndromes and can cause feeding and hearing problems, but can be treated with surgery and counseling.
Pierre Robin syndrome is a genetic abnormality that is usually detected shortly after birth. It is also called Pierre Robin Sequence, or simply malformation. Pierre Robin syndrome is considered a genetic disorder due to the fact that approximately 80% 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 about one in 8,500 births.
While this genetic disorder is more commonly known as Pierre Robin syndrome, it is not a syndrome but is instead a sequence of birth defects. A child is said to have the Pierre Robin sequence if they show a small lower jaw, a tongue that bulges in the back of the mouth and drops in the back of the throat, breathing problems, and sometimes a horseshoe-shaped cleft palate.
There is no exact cause for Pierre Robin malformation, as it is often part of an underlying disorder. There are cases, however, 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 bone formation, which occurs in the first trimester. If the fetus’s jaw gets stuck in the sternum, where the two clavicles meet, it will prevent the jawbone from growing. When the fetus begins to move during the second trimester, the jaw comes off and begins to grow at a normal rate, although it remains out of proportion to the rest of the facial bones.
Babies born with the Pierre Robin Sequence often have feeding problems in infancy, ear infections, and hearing problems. Of these complications, the biggest problem is with nutrition. Due to the small jaw, the baby cannot form a seal around the breast or the bottle nipple. A baby born with the Pierre Robin Sequence may also have a cleft palate, which means they cannot form a negative pressure that allows them to suckle and withdraw milk from the nipple. This can lead to the child having difficulty gaining weight.
Luckily for babies born with Pierre Robin syndrome, there is help available. La Leche League is one of the biggest advocates for parents whose children have this genetic disorder. La Leche League consultants will advise parents on different devices that can help feed the baby and ensure adequate nutrition. When the baby grows up and can be fed with a spoon, this will no longer be a problem.
The 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 were born with Pierre Robin Sequence are advised to seek counseling. This disorder is not caused by anything the mother might have done during pregnancy and could not have been prevented. Pierre Robin syndrome does not tend to run in families, although there is a possibility that any underlying disorders could.
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