Pierre Robin sequence

Disease Overview

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).[5364][11516] This combination of features can lead to difficulty breathing and problems with eating early in life.[11516] 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.[11516] The exact causes of Pierre Robin syndrome are unknown.[5364] Changes (mutations) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence.[11516] Treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.[5364]

Synonyms

• Pierre-Robin syndrome
• Glossoptosis, micrognathia, and cleft palate