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Pierre Robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (cleft palate). This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur alone (isolated) or be associated with a variety of other signs and symptoms (described as syndromic). In about 20 to 40 percent of cases, the condition occurs alone. The exact causes of Pierre Robin syndrome are unknown. Changes (mutations) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence. Treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.
Source: GARD Last updated on 05-01-20
Pierre Robin sequence is a condition with multiple causes. At about 7-10 weeks into a pregnancy, the lower jaw grows rapidly, allowing the tongue to descend from between the two halves of the palate. If, for some reason, the lower jaw does not grow properly, the tongue can prevent the palate from closing, resulting in a cleft palate. The small or displaced lower jaw also causes the tongue to be positioned at the back of the mouth causing breathing difficulties when the child is born. This "sequence of events" is the reason why the condition has been classified as a sequence.. The exact causes of Pierre Robin sequence are unknown. Possible mechanisms for the sequence include genetic causes; low volume of amniotic fluid (oligohydramnios), which may limit chin growth; weakness of the facial muscles (myotonia); or connective tissue disease.
The genetic causes for some of the isolated cases (Pierre Robin sequence without any associated malformations) may include mutations or deletions of parts of the DNA neighboring the SOX9 gene (located in chromosome 17 (17q24)). This gene provides instructions for making a protein (protein SOX9) that plays an important role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those involved in the development of the skeleton, including the jaw.
In about 37% of cases, Pierre Robin occurs as part of a syndrome with multiple malformations. Pierre Robin sequence has been reported as occurring in association with Stickler syndrome (20%-25% of these cases), campomelic dysplasia, trisomy 11q syndrome, deletion 4q syndrome, CHARGE association, velocardiofacial syndrome, and Treacher-Collins syndrome.
Last updated on 05-01-20
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