What is Pierre Robin Sequence?

Pierre Robin sequence was named for French dental surgeon, Pierre Robin (1867-1950). Although others had described the symptoms earlier, he linked all the symptoms (and included breathing problems) in the 1920s.

Pierre Robin sequence is a craniofacial condition, not a syndrome or disease. It is referred to as a sequence because it results as a series of events during a baby's early development in the womb.  Pierre Robin sequence may occur by itself or as part of a disorder or syndrome. More than 30 syndromes include Pierre Robin sequence within their symptoms. For example, approximately 40 percent of patients with Pierre Robin sequence also have Stickler syndrome.  Frequency estimates range from one in 8,500-30,000 live births.

Pierre Robin sequence is also known as Pierre Robin malformation sequence, Pierre Robin complex, Robin Anomalad, and was commonly referred to as Pierre Robin syndrome until 1974. At that time, the term sequence was introduced to be used for conditions including a series, or sequence, of malformations initiated by a single anomaly.

Pierre Robin Sequence Characteristics.

Individuals with this syndrome are typically characterized by the following differences:
-small lower jaw with receding chin
-cleft palate
-large tongue positioned too far back in the mouth
     
Additional characteristics that may be present include:
-feeding problems
-breathing problem
-sleep apnea
-ear infections
-hearing loss

Pierre Robin Sequence Treatment.

Treatment may include palatal closure, jaw surgery, staged orthodontics, ear tubes, and speech therapy.

What is the Cause of Pierre Robin Sequence?

The exact cause of Pierre Robin sequence is unknown. There has not been a gene identified that "causes" Pierre Robin sequence. 

Since it is not genetically linked, most cases are sporadic and the risk of an individual with Pierre Robin sequence to have a child with this sequence is minimal, unless it is part of a syndrome. Similarly, the chances of parents who have a child with Pierre Robin sequence to have another child with this same sequence are minimal, unless the child's condition is part of a syndrome. There does not seem to be a connection between anything the mother did (or didn't do) to cause her baby to have Pierre Robin sequence.   

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