Congenital Abnormality
pierre-robin sequence
Subclass of:
Jaw Abnormalities
Definitions related to pierre robin syndrome:
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A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate.NCI ThesaurusU.S. National Cancer Institute, 2021
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Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(pierre-robin sequence) Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Lannelongue and Menard first described Pierre Robin syndrome in 1891 in a report on 2 patients with micrognathia, cleft palate, and retroglossoptosis. In 1926, Pierre Robin published the case of an infant with the complete syndrome.WebMD, 2019
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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). This combination of features can lead to difficulty breathing and problems with eating...National Center for Advancing Translational Sciences
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