Concept information
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Congenital Abnormalities
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
...
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Preferred term
Pierre Robin Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Glossoptosis, Micrognathia, and Cleft Palate
- Pierre Robin Sequence
- Pierre Robin's Sequence
- Pierre Robins Sequence
- Pierre-Robin Syndrome
- Robin Sequence
- Sequence, Pierre Robin
- Sequence, Pierre Robin's
- Sequence, Robin
- Syndrome, Pierre-Robin
Note
- named for French dentist Pierre Robin: Robin is his surname; note: no hyphen
Scope note
- 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.
History note
- 65(64)
In other languages
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Finnish
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Pierre Robin
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Pierre Robin -oireyhtymä
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Pierre Robin -syndrooma
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Pierre Robinin assosiaatio
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Pierre Robinin syndrooma
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Robin
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Robinin assosiaatio
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Robinin oireyhtymä
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Robinin syndrooma
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syndroma Pierre Robin
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Swedish
URI
http://www.yso.fi/onto/mesh/D010855
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