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Pierre Robin sequence is a congenital (present at birth) condition that involves having a very small lower jaw (micrognathia) or a lower jaw that is set back from the upper jaw (retrognathia). The small lower jaw allows the tongue to be placed back and downward (glossoptosis), which can cause airway obstruction. This may develop over the first one to four weeks of life. Most babies with Pierre Robin sequence also have a cleft palate.
Pierre Robin sequence is named after French doctor Pierre Robin, who first described it in 1923. One in 2,000 to 30,000 babies has Pierre Robin sequence, according to the Cleft Palate Foundation.
Approximately half of babies with Pierre Robin sequence are also born with one or more other conditions, such as Stickler syndrome. Stickler syndrome involves small bones of the face, eye abnormalities, joint problems and hearing loss and is typically caused by changes in the collagen gene.
Pierre Robin sequence can show various symptoms that cause complications with:
Pierre Robin sequence can be diagnosed prenatally (before birth) via a routine ultrasound. After the baby is born, Pierre Robin sequence is diagnosed through a combination of physical exam and other tests as requested by your child's doctor. A geneticist can help determine whether your baby has a related syndrome through genetic testing.
Treatment options are individualized to your child's needs. Treatment for Pierre Robin sequence may include:
Learn more about Pierre Robin sequence and find resources and support at the websites below.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This nonprofit organization addresses medical, financial, psychosocial, emotional and educational concerns relating to Pierre Robin sequence and other craniofacial conditions.
This nonprofit organization offers information and support to parents of children with Pierre Robin sequence and other craniofacial conditions.
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