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Genetic and Rare Diseases Information Center (GARD)

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Pierre Robin sequence


Other Names for this Disease

  • Glossoptosis, micrognathia, and cleft palate
  • Pierre-Robin syndrome
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, a tongue that falls back in the throat, and difficulty breathing.[1][2] Pierre Robin sequence may occur alone or be associated with a variety of other signs and symptoms, such as bifid uvula (a split in the soft flap of tissue that hangs from the back of the mouth), cleft palate, conductive hearing loss, recurring ear infections, eye anomalies (e.g., hypermetropia, myopia, astigmatism), heart defects, joint and skeletal anomalies, central nervous system defects (e.g., language and neurodevelopmental delay, epilepsyhypotonia, and hydrocephalus) and genitourinary defects (e.g., undescended testes, hydronephrosis, and hydrocele).  The exact causes of Pierre Robin syndrome are unknown, however it may occur as part of a variety of different genetic syndromes.[1]

 

Last updated: 7/27/2012

References

  1. Pierre Robin syndrome. MedlinePlus. November 14, 2011; http://www.nlm.nih.gov/medlineplus/ency/article/001607.htm. Accessed 7/27/2012.
  2. Prows CA, Hopkin RJ. Pierre Robin Sequence. NORD Guide to Rare Disorders. 2003;
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Pierre Robin sequence. We will answer your question and update these pages with new resources and information.

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.

General Information

In Depth Information

  • The 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.
  • Medscape Reference has 2 articles on this topic: Pierre Robin Syndrome and Pierre Robin Malformation. You may need to register to view the medical reference, but registration is free.
  • 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
  • Glossoptosis, micrognathia, and cleft palate
  • Pierre-Robin syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.