National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pierre Robin sequence

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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Glossoptosis
Retraction of the tongue
0000162
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
30%-79% of people have these symptoms
Abnormality of the pharynx 0000600
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] 		0002643
Upper airway obstruction 0002781
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Cor pulmonale 0001648
Feeding difficulties in infancy 0008872
Pierre-Robin sequence 0000201
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Last updated: 7/1/2020
Pierre Robin sequence is a condition with multiple causes.[3] At about 7-10 weeks into a pregnancy, the lower jaw grows rapidly, allowing the tongue to descend from between the two halves of the palate. If, for some reason, the lower jaw does not grow properly, the tongue can prevent the palate from closing, resulting in a cleft palate. The small or displaced lower jaw also causes the tongue to be positioned at the back of the mouth causing breathing difficulties when the child is born. This "sequence of events" is the reason why the condition has been classified as a sequence.[4][5][6]. The exact causes of Pierre Robin sequence are unknown.[1] Possible mechanisms for the sequence include genetic causes; low volume of amniotic fluid (oligohydramnios), which may limit chin growth; weakness of the facial muscles (myotonia); or connective tissue disease.[3]

The genetic causes for some of the isolated cases (Pierre Robin sequence without any associated malformations) may include mutations or deletions of parts of the DNA neighboring the SOX9 gene (located in chromosome 17 (17q24)). This gene provides instructions for making a protein (protein SOX9) that plays an important role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those involved in the development of the skeleton, including the jaw.[2] 

In about 37% of cases, Pierre Robin occurs as part of a syndrome with multiple malformations. Pierre Robin sequence has been reported as occurring in association with Stickler syndrome (20%-25% of these cases), campomelic dysplasia, trisomy 11q syndrome, deletion 4q syndrome, CHARGE association, velocardiofacial syndrome, and Treacher-Collins syndrome.[5]
Last updated: 7/14/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.
  3. Buchanan EP & Hollier LH. Syndromes with craniofacial abnormalities. UpToDate. December 18, 2015; http://www.uptodate.com/contents/syndromes-with-craniofacial-abnormalities.
  4. Pierre Robin sequence. Cleft Palate Foundation. 2007; http://www.cleftline.org/parents-individuals/publications/pierre-robin-sequence/.
  5. Tolarova MM. Pierre Robin Sequence. Medscape Reference. October 3, 2014; http://emedicine.medscape.com/article/995706-overview.
  6. Isolated Pierre Robin Sequence. Orphanet Journal of Rare Diseases. 2006; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=562.