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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 (described as syndromic). In about 20 to 40 percent of cases, the condition occurs 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.