| Descriptor English: | Pierre Robin Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Pierre Robin
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| Descriptor Portuguese: | Síndrome de Pierre Robin | ||||
| Descriptor French: | Syndrome de Pierre Robin | ||||
| Entry term(s): |
Glossoptosis, Micrognathia, and Cleft Palate Pierre Robin Sequence Pierre Robin's Sequence Pierre Robins Sequence Pierre-Robin Syndrome Robin Sequence Robin Syndrome, Pierre Sequence, Pierre Robin Sequence, Pierre Robin's Sequence, Robin Syndrome, Pierre Robin Syndrome, Pierre-Robin |
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| Tree number(s): |
C05.500.460.606 C05.660.207.540.460.606 C07.320.440.606 C07.650.500.460.606 C16.131.621.207.540.460.606 C16.131.850.500.460.606 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D010855 | ||||
| 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. |
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| Annotation: | named for French dentist Pierre Robin: Robin is his surname; note: no hyphen |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 65 |
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| History Note: | 65(64) |
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| Related: |
Andersen Syndrome
MeSH Campomelic Dysplasia MeSH SOX9 Transcription Factor MeSH | ||||
| DeCS ID: | 11288 | ||||
| Unique ID: | D010855 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 1965/01/01 | ||||
| Date of Entry: | 1999/01/01 | ||||
| Revision Date: | 2014/06/13 |
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Pierre Robin Syndrome
- Preferred
| Concept UI |
M0016846 |
| 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. |
| Preferred term | Pierre Robin Syndrome |
| Entry term(s) |
Glossoptosis, Micrognathia, and Cleft Palate Pierre Robin Sequence Pierre Robin's Sequence Pierre Robins Sequence Pierre-Robin Syndrome Robin Sequence Robin Syndrome, Pierre Sequence, Pierre Robin Sequence, Pierre Robin's Sequence, Robin Syndrome, Pierre Robin Syndrome, Pierre-Robin |
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