PRBNS
MCID: PRR016
MIFTS: 52

Pierre Robin Syndrome (PRBNS)

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pierre Robin Syndrome

MalaCards integrated aliases for Pierre Robin Syndrome:

Name: Pierre Robin Syndrome 56 13
Pierre Robin Sequence 56 74 52 54
Glossoptosis, Micrognathia, and Cleft Palate 56 52
Isolated Pierre Robin Sequence 58
Isolated Pierre Robin Syndrome 58
Pierre-Robin Syndrome 52
Prbns 56

Characteristics:

Orphanet epidemiological data:

58
isolated pierre robin syndrome
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Netherlands); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive
also an x-linked form and associated with trisomy 18 and other syndromes


HPO:

31
pierre robin syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 261800
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C0031900
Orphanet 58 ORPHA718
MedGen 41 C0031900

Summaries for Pierre Robin Syndrome

NIH Rare Diseases : 52 Pierre Robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia ), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (cleft palate ). This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur alone (isolated) or be associated with a variety of other signs and symptoms (described as syndromic). In about 20 to 40 percent of cases, the condition occurs alone. The exact causes of Pierre Robin syndrome are unknown. Changes (mutations ) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence. Treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.

MalaCards based summary : Pierre Robin Syndrome, also known as pierre robin sequence, is related to rare disease with pierre robin syndrome and isolated pierre robin sequence. An important gene associated with Pierre Robin Syndrome is EBF3 (EBF Transcription Factor 3), and among its related pathways/superpathways are Metabolism and Gene Expression. The drugs Cobalt and Temazepam have been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and bone, and related phenotypes are micrognathia and glossoptosis

OMIM : 56 Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013). (261800)

Wikipedia : 74 Pierre Robin sequence[a] (/pj??r r??'ba~/; abbreviated PRS) is a congenital defect observed in humans... more...

Related Diseases for Pierre Robin Syndrome

Diseases in the Pierre Robin Syndrome family:

Rare Disease with Pierre Robin Syndrome

Diseases related to Pierre Robin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 255)
# Related Disease Score Top Affiliating Genes
1 rare disease with pierre robin syndrome 32.8 MED13L EBF3
2 isolated pierre robin sequence 32.0 MED13L EBF3
3 treacher collins syndrome 1 29.7 RPL26 RPL11
4 diamond-blackfan anemia 28.3 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
5 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.6
6 catel-manzke syndrome 12.6
7 pierre robin syndrome and oligodactyly 12.5
8 otospondylomegaepiphyseal dysplasia, autosomal dominant 12.4
9 pierre robin syndrome skeletal dysplasia polydactyly 12.4
10 pierre robin syndrome associated with collagen disease 12.4
11 pierre robin syndrome associated with a chromosomal anomaly 12.4
12 pierre robin syndrome associated with bone disease 12.4
13 pierre robin syndrome associated with branchial archs anomalies 12.4
14 obsolete: syndrome associated with pierre robin syndrome 12.4
15 teratogenic pierre robin syndrome 12.4
16 sucking/swallowing disorder not related with pierre robin syndrome 12.4
17 obsolete: pierre robin syndrome associated with miscellaneous anomalies 12.4
18 genetic syndromic pierre robin syndrome 12.4
19 contractures-developmental delay-pierre robin syndrome 12.4
20 tarp syndrome 12.1
21 campomelic dysplasia 12.1
22 cerebrocostomandibular syndrome 11.8
23 stickler syndrome, type i 11.7
24 stickler syndrome, type ii 11.7
25 stickler syndrome, type iv 11.7
26 stickler syndrome, type v 11.7
27 carey-fineman-ziter syndrome 11.5
28 marshall syndrome 11.5
29 say syndrome 11.5
30 ventricular extrasystoles with syncope, perodactyly, and robin sequence 11.5
31 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.5
32 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.5
33 otopalatodigital syndrome, type ii 11.5
34 robin sequence with cleft mandible and limb anomalies 11.4
35 pierre robin sequence with facial and digital anomalies 11.4
36 robin sequence with distinctive facial appearance and brachydactyly 11.4
37 chitayat meunier hodgkinson syndrome 11.4
38 hypoglossia-hypodactylia 11.4
39 diamond-blackfan anemia 1 11.4
40 atelosteogenesis, type i 11.4
41 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.4
42 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.4
43 diamond-blackfan anemia 3 11.4
44 diamond-blackfan anemia 4 11.4
45 diamond-blackfan anemia 5 11.4
46 diamond-blackfan anemia 6 11.4
47 diamond-blackfan anemia 7 11.4
48 diamond-blackfan anemia 8 11.4
49 diamond-blackfan anemia 9 11.4
50 diamond-blackfan anemia 10 11.4

Graphical network of the top 20 diseases related to Pierre Robin Syndrome:



Diseases related to Pierre Robin Syndrome

Symptoms & Phenotypes for Pierre Robin Syndrome

Human phenotypes related to Pierre Robin Syndrome:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 glossoptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000162
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
5 abnormality of the pharynx 58 31 frequent (33%) Frequent (79-30%) HP:0000600
6 upper airway obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0002781
7 feeding difficulties in infancy 31 HP:0008872
8 pierre-robin sequence 31 HP:0000201
9 cor pulmonale 31 HP:0001648

Symptoms via clinical synopsis from OMIM:

56
Mouth:
micrognathia
glossoptosis
cleft palate

Cardiac:
cor pulmonale

Resp:
neonatal respiratory distress
upper airway obstruction

G I:
neonatal feeding problems

Clinical features from OMIM:

261800

GenomeRNAi Phenotypes related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NF-kappaB reporter expression GR00312-A 9.85 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 9.63 MED13L RPL11 RPL15 RPL18 RPL26 RPL27
3 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.62 RPL11 RPL15 RPL18 RPL35
4 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL11 RPL18 RPL26 RPL27 RPL35
5 HIV Rev nuclear localization GR00247-A-3 9.26 RPL11 RPL15
6 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.02 RPL11 RPL18 RPL26 RPL27 RPL35

Drugs & Therapeutics for Pierre Robin Syndrome

Drugs for Pierre Robin Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cobalt Approved, Experimental Phase 1 7440-48-4 104729
2
Temazepam Approved, Investigational 846-50-4 5391
3
Threonine Approved, Nutraceutical 72-19-5 6288

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Comparison Between Two Video Laryngoscopes,the Truview PCD and the Glidescope Cobalt AVL, in Successfully Intubating Pediatric Mannequins With and Without Difficult Airways Completed NCT02198742 Phase 1
2 Predictive Modeling for Treatment of Upper Airway Obstruction in Young Children Completed NCT01690078
3 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
4 Cohort Study on Prevalence and Early Treatment Outcomes in Pierre-Robin-Like Phenotype Completed NCT02266043
5 Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence Recruiting NCT03194178
6 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017
7 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
8 Analysis of Muscle Activity With Myofunctional Devices, Using Surface Electromyography Not yet recruiting NCT03863275
9 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329
10 Assessment of Feeding and Eating Disorders of Young Children : Standardisation of a New Tool, the Hetero-questionnaire Named ORALQUEST Not yet recruiting NCT04133038
11 Pierre Robin Sequence Outcome Assessment Multi Institutional Study (PROMIS) Withdrawn NCT02432638

Search NIH Clinical Center for Pierre Robin Syndrome

Genetic Tests for Pierre Robin Syndrome

Anatomical Context for Pierre Robin Syndrome

MalaCards organs/tissues related to Pierre Robin Syndrome:

40
Tongue, Heart, Bone, Eye, Lung, Testes, Thymus

Publications for Pierre Robin Syndrome

Articles related to Pierre Robin Syndrome:

(show top 50) (show all 1052)
# Title Authors PMID Year
1
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. 54 61 56
17551083 2007
2
Developmental and genetic perspectives on Pierre Robin sequence. 61 56
24127256 2013
3
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. 61 56
19234473 2009
4
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. 61 56
11484197 2001
5
Pierre Robin syndrome in siblings. 61 56
5481910 1970
6
Cardiac malformations with facial clefts; with observations on the Pierre Robin syndrome. 61 56
5414813 1970
7
[ON THE PATHOGENESIS AND THERAPY OF PIERRE ROBIN SYNDROME]. 61 56
14293686 1964
8
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. 56
21295280 2011
9
A genetic follow-up study of 64 patients with the Pierre Robin complex. 56
3674115 1987
10
Long-range regulation at the SOX9 locus in development and disease. 54 61
19473998 2009
11
Pierre Robin Sequence: Incidence of Speech-Correcting Surgeries and Fistula Formation. 61
31530001 2020
12
Safety of nasal stenting in pharyngeal flap surgery for pediatric velopharyngeal dysfunction. 61
31794903 2020
13
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. 61
31923704 2020
14
Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate? 61
31638729 2020
15
Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair. 61
31913900 2020
16
An Intraoperative Salvage After Transection of the Greater Palatine Artery During Cleft Palate Repair: A Case for Buccal Fat and Buccal Myomucosal Flaps. 61
31934976 2020
17
The Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate. 61
31725501 2020
18
Airway Morphological Changes in Pierre Robin Sequence: A Retrospective Study. 61
31964165 2020
19
A Novel Geometric Morphometric Analytical Method for Classifying Mandibular Morphology in Infants With Isolated Pierre Robin Sequence. 61
32032530 2020
20
Orthodontic plate for management of obstructive sleep apnoea in infants with Pierre Robin sequence: experience and protocol in Hong Kong. 61
31597511 2019
21
Alveolar Rhabdomyosarcoma Following Mandibular Distraction Osteogenesis. 61
31895866 2019
22
[Clinical assessment and related intervention of neonatal upper airway obstruction]. 61
31914263 2019
23
Pierre Robin Sequence in a Child With Ectopic Kidney, Polysyndactyly, And Short Stature: A Case Report. 61
31903312 2019
24
Dynamical Changes of Mandible and Upper Airway After Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 61
31895862 2019
25
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2019
26
Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features. 61
31915619 2019
27
Stickler Syndrome: Airway Complications in a Case Series of 502 Patients. 61
31856005 2019
28
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. 61
31509347 2019
29
Optimal duration of mechanical ventilation and influencing factors following mandibular distraction osteogenesis in infants with Pierre Robin sequence. 61
31860988 2019
30
The Effect of Cleft Palate Repair on Polysomnography Results. 61
31739847 2019
31
High-flow nasal cannula for children not compliant with continuous positive airway pressure. 61
31604152 2019
32
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. 61
31769200 2019
33
Humidified versus nonhumidified low-flow oxygen therapy in children with Pierre-Robin syndrome: Study protocol for a randomised controlled trial. 61
31162860 2019
34
Cervical Stenosis in Non-Syndromic Pierre Robin Sequence. 61
31283644 2019
35
The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study. 61
31499229 2019
36
Mid-Term Outcome of Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 61
31335579 2019
37
Neonatal Functional Treatment for Pierre Robin Sequence. 61
31565690 2019
38
Kyphomelic dysplasia, Pierre Robin Sequence and pregnant. 61
30879933 2019
39
Expanding the phenotypic spectrum associated with DPF2: A new case report. 61
31207137 2019
40
Minimal incision palatoplasty with or without muscle reconstruction in patients with isolated cleft palate-a cephalometric study at 5 and 10 years. 61
30445528 2019
41
Comparative evaluation of Airtraq™ and GlideScope® videolaryngoscopes for difficult pediatric intubation in a Pierre Robin manikin. 61
31119438 2019
42
Glossoptosis in Pierre Robin sequence. 61
29728421 2019
43
Sleep and respiratory outcomes in neonates with Pierre Robin sequence: a concise review. 61
31240543 2019
44
The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review. 61
31005410 2019
45
Methadone, Pierre Robin sequence and other congenital anomalies: case-control study. 61
31229957 2019
46
Case report of neonate Pierre Robin sequence with severe upper airway obstruction who was rescued by finger guide intubation. 61
31117960 2019
47
Gabriele-de Vries Syndrome 61
31145572 2019
48
Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice. 61
30413887 2019
49
[Modified palatoplasty for children of Pierre Robin sequence with cleft palate:clinical analysis of 12 consecutive cases]. 61
31384910 2019
50
Pierre Robin Sequence. 61
30851756 2019

Variations for Pierre Robin Syndrome

ClinVar genetic disease variations for Pierre Robin Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;ins(5;6)(p13;p24p25)dnTranslocation Pathogenic 267851
2 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
3 EBF3 NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln)SNV Pathogenic/Likely pathogenic 268156 rs1057519389 10:131755588-131755588 10:129957324-129957324
4 covers 27 genes, none of which curated to show dosage sensitivity duplication Likely pathogenic 562231 17:7124585-7400253
5 CYBRD1 , DLX1 , DLX2 , DYNC1I2 , HAT1 , METAP1D , SLC25A12 GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4copy number gain Uncertain significance 559503 2:172344870-173038935
6 TNNT3 NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)SNV Uncertain significance 252670 rs367658497 11:1956135-1956135 11:1934905-1934905
7 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836
8 46;XX;t(1;13)(p36.1;q12.1)dnTranslocation Uncertain significance 267878
9 46;XX;t(6;7;17)(p23;p22;q25)patTranslocation Uncertain significance 267909
10 46;XY;t(10;17)(p13;q23)dnTranslocation Uncertain significance 268030

Expression for Pierre Robin Syndrome

Search GEO for disease gene expression data for Pierre Robin Syndrome.

Pathways for Pierre Robin Syndrome

Pathways related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
2
Show member pathways
13.28 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
3
Show member pathways
13.22 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
4
Show member pathways
13.13 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
5
Show member pathways
13 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
6
Show member pathways
12.24 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
7
Show member pathways
11.75 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11

GO Terms for Pierre Robin Syndrome

Cellular components related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 9.63 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
2 nucleolus GO:0005730 9.62 RPL35 RPL26 RPL18 RPL11
3 ribosome GO:0005840 9.43 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
4 rough endoplasmic reticulum GO:0005791 9.37 RPL27 RPL18
5 polysomal ribosome GO:0042788 9.26 RPL18 RPL11
6 cytosolic large ribosomal subunit GO:0022625 9.1 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11

Biological processes related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.8 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
2 translational initiation GO:0006413 9.73 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
3 cytoplasmic translation GO:0002181 9.67 RPL26 RPL18 RPL15 RPL11
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.63 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
5 rRNA processing GO:0006364 9.58 RPL27 RPL26 RPL11
6 protein localization to nucleus GO:0034504 9.46 SOX9 RPL11
7 ribosomal large subunit biogenesis GO:0042273 9.43 RPL26 RPL11
8 viral transcription GO:0019083 9.43 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
9 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.1 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11

Molecular functions related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.43 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11
2 structural constituent of ribosome GO:0003735 9.1 RPL35 RPL27 RPL26 RPL18 RPL15 RPL11

Sources for Pierre Robin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....