Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

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.

Cause

Newline Maker

What causes Pierre Robin sequence?

The exact causes of Pierre Robin sequence are unknown.[1] Pierre Robin syndrome can occur in otherwise healthy individuals. These isolated or nonsyndromic cases may be caused by mutations in the SOX9 gene. This gene provides intructions for making a protein 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]

Pierre Robin sequence can also occur as part of a variety of different syndromes. Pierre Robin sequence has been reported as occurring in association with Stickler syndrome, campomelic dysplasia, trisomy 11q syndrome, deletion 4q syndrome, CHARGE association, velocardiofacial syndrome, and Treacher-Collins syndrome.[3]
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.
  3. Tolarova MM. Pierre Robin Sequence. Medscape Reference. October 3, 2014; http://emedicine.medscape.com/article/995706-overview.


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.