Pierre Robin Syndrome

Pierre Robin Syndrome

  Autor NN Team Data: 21.05.2009

Pierre Robin Syndrome
Pierre Robin Syndrome or Pierre Robin Sequence is a rare congenital malformation which affects one out of 20.000 children, and is characterized by three different facial abnormalities: 
  • Micrognathia - the jaw is undersized, the chin is very small. 
  • Glossoptozsis - tongue's tendency to retract to pharynx, obstructing the breathing. 
  • The palate closure or the palates are very arched, without closure - the roof of the mouth is incompletely closed, U-shaped. 
All children born with Pierre Robin, have difficulties. The most frequent are related to breathing and sucking. The breathing is obstructed by the position of tongue, and the sucking becomes difficult because of the palate closure that doesn't allow the oral cavity to form a vacuum, like in the healthy baby. 

In some children, there only slight breathing and feeding difficulties. Others have moderate problems which need hospitalization until the child's manage to eat and breathe normally. There are rare cases when the breathing and feeding problems are serious and might last for a few months. Usually, these children need help to breathe, and this is provided by a nasal tube or a tracheotomy. 

If the palate closure exists, it might be repaired by surgery, after the age of six months, depending on the severity of the breathing difficulty and on the doctor's will. 

It is not known how the Pierre Robin syndrome occurs, but one theory says that it occurs as a result of a sequence of events which happen during the intrauterine development, at the stage of bones formation. The tip of the jaw gets stuck in the point where the clavicles meet the sternum, and stop growing. At about 12 to 14 weeks of pregnancy, when the fetus starts moving, the movement of the head causes the jaw to pop out of the clavicles. In this way, the jaw might grow but it will be smaller than normally as it lost some time. As a result, the tongue will develop raised and won't allow the palate to close completely, thus the characteristic palate closure. 

It is considered that this events sequence might be the result of lack of folic acid during the pregnancy or of a virus action, but there are no exact evidences of this. 

Usually, the syndrome is diagnosed shortly after birth, and the shape of the jaw is the first clue that something is not right. 

Pierre Robin sequence might occur by itself or with other daises, such as Stickler syndrome. That's why the newborn must be seen by an experienced doctor to establish an exact diagnosis. 

Usually, the Pierre Robin syndrome is not hereditary. It is considered to be the result of unpleasant events sequence. But some cases are caused by the Stickler syndrome, which is the result of a genetic hereditary disorder. 

When the palate closure exists, it might be observed by ultrasoundexamination, during pregnancy.

Generally, the prognosis is good for children with Pierre Robin syndrome. Internationally, it was noticed that people with this disease are shorter and less developed than the healthy ones, but this might be the result of feeding and breathing difficulties. However, children with Pierre Robin syndrome become normal adults usually, with a normal degree of physical and psychological development, provided that they receive the necessary medical care. 

Read the English version of this article: Pierre Robin Syndrome