Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandJaw Abnormalities (D007569)
..Starting node
..expandPierre Robin Syndrome (D010855)

       Child Nodes:
........expandCatel Manzke syndrome (C535347)
........expandChitayat Meunier Hodgkinson syndrome (C535926)
........expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
........expandFemoral facial syndrome (C537916)
........expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
........expandPierre Robin Sequence with Facial and Digital Anomalies (C564078)
........expandPierre Robin sequence with pectus excavatum and rib and scapular anomalies (C535775)
........expandPierre Robin syndrome with fetal chondrodysplasia (C535776)
........expandRadial defect Robin sequence (C536261)
........expandRichieri Costa Pereira syndrome (C535677)
........expandRobin sequence and oligodactyly (C535688)
........expandRobin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
........expandSanderson Fraser syndrome (C537232)
........expandStevenson-Carey Syndrome (C567446)
........expandStoll Alembik Dott syndrome (C537497)
........expandTARP syndrome (C536942)
........expandThrombocytopenia Robin sequence (C536898)
........expandVentricular extrasystoles perodactyly Robin sequence (C536537)



 Sister Nodes: 
..expandAcrorenal mandibular syndrome (C535665)
..expandAgnathia-microstomia-synotia (C538059)
..expandCleft Palate (D002972) Child103
..expandCleft Palate-Lateral Synechia Syndrome (C563047)
..expandDysgnathia complex (C537996)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandGNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..expandHypoglossia-Hypodactylia (C566308)
..expandMarcus Gunn phenomenon (C535908)
..expandMENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..expandMicrognathism (D008844) Child20
..expandOphthalmomandibulomelic Dysplasia (C563501)
..expandPierre Robin Syndrome (D010855) Child18
..expandPrognathism (D011378) Child4
..expandRetrognathia (D063173) Child3
..expandVerloove-Vanhorick Brubakk syndrome (C536541)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8929
Name:Pierre Robin Syndrome
Definition: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.
Alternative IDs:OMIM:261800
ParentIDs:MESH:D007569
TreeNumbers: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
Synonyms:Glossoptosis, Micrognathia, and Cleft Palate |Pierre Robin Sequence |Pierre Robin's Sequence |Pierre Robins Sequence |Pierre-Robin Syndrome |PRBNS |Robin Sequence |Robin Syndrome, Pierre |Sequence, Pierre Robin |Sequence, Pierre Robin's |Sequence, Robin |Syndrome,
Slim Mappings:Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference: MedGen: D010855
MeSH: D010855
OMIM: 261800;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000175Cleft palate
3 HP:0001648Cor pulmonale
4 HP:0008872Feeding difficulties in infancy
5 HP:0000162Glossoptosis
6 HP:0000347Micrognathia
7 HP:0002643Neonatal respiratory distress
8 HP:0000201Pierre-Robin sequence
9 HP:0002781Upper airway obstruction
Disease Causing ClinVar Variants