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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
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Overview



What is Pierre Robin sequence?

What causes Pierre Robin sequence?


What is Pierre Robin sequence?

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

What causes Pierre Robin sequence?

The exact causes of Pierre Robin syndrome are unknown. Pierre-Robin syndrome can occur in otherwise healthy individuals. It can also occur as part of a variety of different syndromes. Pierre Robin sequence has been reported as occurring in association with Stickler syndrome, trisomy 18 syndrome, trisomy 11q syndrome, deletion 4q syndrome, rheumatoid arthropathy, hypochondroplasia, Moebius syndrome, CHARGE association, velocardiofacial syndrome, and Treacher-Collins syndrome.[3][4]
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;
  3. Tolarova MM. Pierre Robin Malformation. Medscape Reference. March 13, 2012; http://emedicine.medscape.com/article/995706-overview. Accessed 7/27/2012.
  4. Jones KL. Robin Sequence. Smith's Recognizable Patterns of Human Malformation, 6th ed.. Philadelphia: Elsevier / Saunders; 2006;