Pierre Robin Syndrome is a medical condition named for the French surgeon Pierre Robin. The congenital disorder, present at birth, results in facial abnormalities. Also known as Pierre Robin Sequence (PRS), Pierre Robin Malformation, and Pierre Robin Complex, the condition is actually an occurrence of malformations that show up in sequence.
Causes PRS is characterized by an unusually small lower jaw, a tongue that falls back in the throat, and breathing problems due to an airway blockage. The exact cause of the disorder is unknown, but doctors believe it is part of an underlying genetic syndrome. Stickler Syndrome is the most common underlying syndrome. But PRS is also often associated with Fetal Alcohol Syndrome, Treacher Collins Syndrome, and other genetic disorders.
Signs And Symptoms Children with Pierre Robin Syndrome have a lower jaw that develops very slowly before birth. Development usually speeds up during the first year of life, and most children eventually reach full development and size. The most common signs and symptoms of PRS include: cleft palate; small jaw; receding chin; large-looking tongue; natal teeth; ear infections; and a hole in the roof of the mouth. Most doctors can diagnose the condition during a physical exam. A genetics specialist can rule out other problems associated with PRS.
Treatment Because the tongue can obstruct the airway, babies with Pierre Robin Syndrome should not be placed on their backs. Breathing problems can be treated with a breathing tube or surgery to create an airway in the windpipe (tracheostomy). Careful feeding, and possibly tube feeding, can help prevent a child with PRS from choking or breathing liquids into the airway.
Complications As the lower jaw grows to normal size, feeding and choking problems usually go away on their own. In addition to choking, feeding, and breathing difficulties, children with Pierre Robin Syndrome may experience other complications. These include: low blood oxygen resulting in brain damage; pulmonary hypertension (high blood pressure in the lungs); congestive heart failure; or death.
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