Concept information
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
...
Congenital Abnormalities
Stomatognathic System 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
-
Finnish
-
Pierre Robin
-
Pierre Robin -oireyhtymä
-
Pierre Robin -syndrooma
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Pierre Robinin assosiaatio
-
Pierre Robinin syndrooma
-
Robin
-
Robinin assosiaatio
-
Robinin oireyhtymä
-
Robinin syndrooma
-
syndroma Pierre Robin
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Swedish
URI
http://www.yso.fi/onto/mesh/D010855
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