Pierre Robin sequence
- Pierre-Robin syndrome
- Glossoptosis, micrognathia, and cleft palate
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. These cases are described as syndromic. Approximately 20 to 40 percent of cases occur 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.
- Pierre Robin syndrome. MedlinePlus. October 29, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001607.htm.
- Isolated Pierre Robin sequence. Genetics HOme Reference (GHR). August 2013; https://ghr.nlm.nih.gov/condition/isolated-pierre-robin-sequence.
- Genetics Home Reference contains information on Pierre Robin sequence. This website is maintained by the National Library of Medicine.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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