What is Pierre Robin Sequence?
One in every 8500 babies is born with Pierre Robin (pronounced Roban) Sequence or Complex. (2)
Babies born with Pierre Robin have a smaller-than-normal lower jaws and/or lower jaws that are set back from the upper jaw. The result is that the tongue is pushed towards the back of the throat where it can fall back and obstruct the airway. (1, 4)
Most infants, though not all, also have a cleft palate.
Boys and girls are affected equally, except in the X-linked form which includes cardiac malformations and clubfeet. (1)
Pierre Robin is called a "sequence" because a sequence of malformations results in the actual symptoms.
Other symptoms besides those above include:
• Cleft soft palate
• High-arched palate
• Small lower jaw with receding chin
• Jaw that is far back in the throat
• Recurring ear infections
• Natal teeth (teeth that are erupted at birth)
• Large tongue compared to the jaw
source: Pubmed health (3)
What Causes Pierre Robin Complex?
At about 7 to 10 weeks’ gestation, the lower jaw grows rapidly and the tongue descends from between the two halves of the palate. If the lower jaw does not grow properly, the tongue remains up in the mouth and the palate is unable to close. The displaced tongue also causes breathing difficulties. (1)
Pierre Robin Sequence can happen on its own or in combination with another syndrome. In 10 to 30 percent of cases, PRS presents with Stickler Syndrome, or with velocardiofacial syndrome in 10 percent of cases. (1, 4) Babies may also present with Treacher Collins syndrome. (1)
How Does Pierre Robin Complex Affect My Baby?
The severity of symptoms varies from patient to patient. Some patients will not need treatment at all. Others will require intervention. The major concern with these infants is maintaining their airways and getting them enough nourishment.
Babies should not be placed on their backs as this can lead to the tongue falling back into the throat. The size of the lower jaw, position of the tongue and the cleft palate can make it difficult for baby to eat, or to eat without food going into the airway or into the lungs.
Special bottle nipples or a feeding tube placed through the nose may be necessary for the first month. Longer-term feeding may require a feeding tube placed through the abdominal wall.
All children with cleft palate are at increased risk for fluid build-up behind the ear drum and ear tubes may be necessary to drain the fluid.(1) If left untreated, the resultant temporary hearing loss can interfere with speech and language development. (1) Early hearing tests will also be important.
In some cases, the lower jaw grows rapidly through the first year and by 4 or 6 years of age, the child’s facial profile will look normal. In those cases where this growth doesn’t happen, surgery to repair the jaw is the most likely treatment. Surgery to repair a cleft palate will be done at 24 to 48 months.
Sources:
1) Pierre Robin Sequence. Cleft Palate Foundation. Web. Oct 9, 2012.
http://www.cleftline.org/what-we-do/publications/fact-sheets/pierre-robin-sequence
2) Pierre Robin Syndrome. Medscape Reference. Web. Oct 9, 2012.
http://emedicine.medscape.com/article/844143-overview#aw2aab6b3
3) Pierre Robin Syndrome. PubMed Health U.S. National Library of Medicine. Web. Oct 9, 2012.
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002574
4) “A Guide to Understanding Pierre Robin Sequence”. Children’s Craniofacial Association. Web. Oct 9, 2012.
http://www.ccakids.com/Syndrome/pierrerobin.pdf
Reviewed October 9, 2012
by Michele Blacksberg RN
Edited by Jody Smith