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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pierre Robin sequence


Other Names for this Disease
  • Pierre-Robin syndrome
  • Glossoptosis, micrognathia, and cleft palate
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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).[1][2] This combination of features can lead to difficulty breathing and problems with eating early in life.[2] 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.[2] The exact causes of Pierre Robin syndrome are unknown.[1] Changes (mutations) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence.[2] Treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.[1]

 

Last updated: 5/16/2016

References

  1. Pierre Robin syndrome. MedlinePlus. October 29, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001607.htm.
  2. Isolated Pierre Robin sequence. Genetics HOme Reference (GHR). August 2013; https://ghr.nlm.nih.gov/condition/isolated-pierre-robin-sequence.
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Basic Information

  • Genetics Home Reference contains information on Pierre Robin sequence. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pierre Robin sequence. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Pierre-Robin syndrome
  • Glossoptosis, micrognathia, and cleft palate
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.