Pierre Robin sequence
Other Names for this Disease
- Glossoptosis, micrognathia, and cleft palate
- Pierre-Robin syndrome
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. 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, epilepsy, hypotonia, 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.
- Pierre Robin syndrome. MedlinePlus. November 14, 2011; http://www.nlm.nih.gov/medlineplus/ency/article/001607.htm. Accessed 7/27/2012.
- Prows CA, Hopkin RJ. Pierre Robin Sequence. NORD Guide to Rare Disorders. 2003;
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pierre Robin sequence. Click on the link to go to OMIM and review these resources.
- 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.