- 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.
- Terms
-
Pierre Robin Syndrome
Preferred Term
Term UI
T032005
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Glossoptosis, Micrognathia, and Cleft Palate
Term UI
T781820
Date12/09/2010
LexicalTag
NON
ThesaurusID
-
Pierre Robin Sequence
Term UI
T797960
Date10/03/2011
LexicalTag
EPO
ThesaurusID
-
Pierre Robin's Sequence
Term UI
T781821
Date12/09/2010
LexicalTag
EPO
ThesaurusID
-
Pierre-Robin Syndrome
Term UI
T032004
Date11/28/1977
LexicalTag
EPO
ThesaurusID
-
Robin Sequence
Term UI
T853631
Date01/16/2014
LexicalTag
EPO
ThesaurusID
NLM (2015)