Search on: ROBIN SYNDROME, PIERRE 
Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   Pierre Robin Syndrome 
Descriptor Spanish:   Síndrome de Pierre Robin 
Descriptor Portuguese:   Síndrome de Pierre Robin 
Synonyms English:   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  
Tree Number:   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
Definition English:   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. 
Indexing Annotation English:   named for French dentist Pierre Robin: Robin is his surname; note: no hyphen
See Related English:   Andersen Syndrome
Campomelic Dysplasia
SOX9 Transcription Factor
 
History Note English:   65(64) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   11288 
Unique Identifier:   D010855 

Occurrence in VHL: 		 

Similar:
  
DeCS