PRBNS
MCID: PRR016
MIFTS: 55

Pierre Robin Syndrome (PRBNS)

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Pierre Robin Syndrome

MalaCards integrated aliases for Pierre Robin Syndrome:

Name: Pierre Robin Syndrome 57 13
Pierre Robin Sequence 57 53 55
Glossoptosis, Micrognathia, and Cleft Palate 57 53
Isolated Pierre Robin Sequence 59
Isolated Pierre Robin Syndrome 59
Pierre Robin's Sequence 76
Pierre-Robin Syndrome 53
Prbns 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive
also an x-linked form and associated with trisomy 18 and other syndromes


HPO:

32
pierre robin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 261800
Orphanet 59 ORPHA718
UMLS via Orphanet 74 C0031900
ICD10 via Orphanet 34 Q87.0
MedGen 42 C0031900

Summaries for Pierre Robin Syndrome

NIH Rare Diseases : 53 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 isolated pierre robin sequence and diamond-blackfan anemia. An important gene associated with Pierre Robin Syndrome is MED13L (Mediator Complex Subunit 13 Like), 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 glossoptosis and cleft palate

OMIM : 57 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 : 76 Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin sequence, Pierre Robin... more...

Related Diseases for Pierre Robin Syndrome

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 isolated pierre robin sequence 31.8 EBF3 MED13L
2 diamond-blackfan anemia 29.2 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
3 pierre robin syndrome and oligodactyly 12.5
4 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.5
5 pierre robin syndrome skeletal dysplasia polydactyly 12.3
6 contractures-developmental delay-pierre robin syndrome 12.3
7 catel-manzke syndrome 12.3
8 otospondylomegaepiphyseal dysplasia, autosomal dominant 12.1
9 campomelic dysplasia 11.7
10 tarp syndrome 11.7
11 stickler syndrome, type i 11.6
12 stickler syndrome, type ii 11.5
13 stickler syndrome, type iv 11.5
14 stickler syndrome, type v 11.5
15 marshall syndrome 11.4
16 say syndrome 11.4
17 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.4
18 corpus callosum, agenesis of, with facial anomalies and robin sequence 11.4
19 carey-fineman-ziter syndrome 11.4
20 otopalatodigital syndrome, type ii 11.4
21 ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence 11.4
22 robin sequence with cleft mandible and limb anomalies 11.3
23 pierre robin sequence with facial and digital anomalies 11.3
24 robin sequence with distinctive facial appearance and brachydactyly 11.3
25 chitayat meunier hodgkinson syndrome 11.3
26 hypoglossia-hypodactylia 11.2
27 diamond-blackfan anemia 1 11.2
28 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.2
29 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.2
30 diamond-blackfan anemia 3 11.2
31 diamond-blackfan anemia 4 11.2
32 diamond-blackfan anemia 5 11.2
33 diamond-blackfan anemia 6 11.2
34 diamond-blackfan anemia 7 11.2
35 diamond-blackfan anemia 8 11.2
36 diamond-blackfan anemia 9 11.2
37 diamond-blackfan anemia 10 11.2
38 diamond-blackfan anemia 11 11.2
39 diamond-blackfan anemia 12 11.2
40 diamond-blackfan anemia 13 11.2
41 diamond-blackfan anemia 16 11.2
42 diamond-blackfan anemia 17 11.2
43 cleft palate, isolated 10.6
44 sleep apnea 10.5
45 gastroesophageal reflux 10.2
46 van der woude syndrome 1 10.2
47 klippel-feil syndrome 10.2
48 congenital microgastria 10.2
49 ankyloglossia 10.2
50 sacral defect with anterior meningocele 10.2

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



Diseases related to Pierre Robin Syndrome

Symptoms & Phenotypes for Pierre Robin Syndrome

Symptoms via clinical synopsis from OMIM:

57
Mouth:
glossoptosis
cleft palate
micrognathia

Cardiac:
cor pulmonale

Resp:
neonatal respiratory distress
upper airway obstruction

G I:
neonatal feeding problems


Clinical features from OMIM:

261800

Human phenotypes related to Pierre Robin Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glossoptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000162
2 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 abnormality of the pharynx 59 32 frequent (33%) Frequent (79-30%) HP:0000600
5 neonatal respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002643
6 upper airway obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0002781
7 feeding difficulties in infancy 32 HP:0008872
8 pierre-robin sequence 32 HP:0000201
9 cor pulmonale 32 HP:0001648

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.21 RPL5 RPS29 SOX9
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.21 RPS29
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.21 RPS29
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.21 RPL5 SOX9
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.21 RPS29
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.21 RPL5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.21 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.21 SOX9
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.21 RPL5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.21 RPL5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.21 RPL5
12 Decreased NF-kappaB reporter expression GR00312-A 9.88 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
13 Decreased viability GR00106-A-0 9.8 RPL5 RPS17 RPS29
14 Decreased viability GR00402-S-2 9.8 RPL5 RPS17 RPS29
15 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 9.73 MED13L RPL27 RPL35A RPL5 RPS17 RPS29
16 Nuclear 40S maturation defects GR00209-A-2 9.33 RPS17 RPS28 RPS29
17 Nuclear 60S biogenesis defects GR00209-A-3 9.13 RPL27 RPL35A RPL5
18 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.1 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29

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 Not Applicable 846-50-4 5391
3 threonine Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Comparison Between Two Video Laryngoscopes,in Successfully Intubating Pediatric Mannequins w/wo Difficult Airways Completed NCT02198742 Phase 1
2 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
3 Early Treatment Outcomes in Pierre-Robin-Like Phenotype Completed NCT02266043
4 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
5 Functional Modeling of the Pediatric Airway Completed NCT01690078
6 Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence Recruiting NCT03194178
7 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017 Not Applicable
8 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843 Not Applicable
9 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable
10 Pierre Robin Sequence Outcome Assessment Multi Institutional Study 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:

41
Tongue, Heart, Bone, Testes, Lung, Eye, Thymus

Publications for Pierre Robin Syndrome

Articles related to Pierre Robin Syndrome:

(show top 50) (show all 500)
# Title Authors Year
1
Novel dental phenotype in non-syndromic Pierre Robin Sequence: A retrospective study. ( 30391793 )
2019
2
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. ( 29159987 )
2018
3
Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes. ( 29651537 )
2018
4
The Effect of Mandibular Distraction Osteogenesis on Weight Velocity in Infants With Severe Pierre Robin Syndrome. ( 29863566 )
2018
5
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. ( 30524470 )
2018
6
Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. ( 30213438 )
2018
7
Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. ( 29708799 )
2018
8
Letter to the Editor: Regarding "Airway Management in Pierre Robin Sequence: Patterns of Practice". ( 27441703 )
2018
9
Condylar positions before and after bilateral mandibular distraction osteogenesis in children with Pierre Robin sequence. ( 28826759 )
2018
10
Evaluation of the efficacy of tongue-lip adhesion in Pierre Robin sequence. ( 29195837 )
2018
11
Pierre Robin Sequence: An Evidence-Based Treatment Proposal. ( 29215441 )
2018
12
Predictors of speech outcomes in children with Pierre Robin sequence. ( 29317143 )
2018
13
Diagnosing Tongue Base Obstruction in Pierre Robin Sequence Infants: Sleep vs Awake Endoscopy. ( 29446988 )
2018
14
Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia. ( 29489401 )
2018
15
Algorithm for Airway Management in Patients With Pierre Robin Sequence. ( 29554066 )
2018
16
Pierre robin sequence with cervicothoracic kyphoscoliosis: An anesthetic challenge. ( 29643641 )
2018
17
Mandibular Catch-Up Growth in Pierre Robin Sequence: A Systematic Review. ( 29727222 )
2018
18
Glossoptosis in Pierre Robin sequence. ( 29728421 )
2018
19
Pierre Robin sequence: A comprehensive narrative review of the literature over time. ( 29777780 )
2018
20
A Single Lab Test to Aid Pierre Robin Sequence Severity Diagnosis. ( 29791187 )
2018
21
Impact of early intravelar veloplasty at six months on mandibular growth in patients with Pierre Robin Sequence. ( 29793779 )
2018
22
Surgical Management and Outcomes of Pierre Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion. ( 29870511 )
2018
23
Management of Airway Obstruction in Infants With Pierre Robin Sequence. ( 29922540 )
2018
24
A generalized multistage approach to oral and nasal intubation in infants with Pierre Robin sequence: A retrospective review. ( 30284747 )
2018
25
Cleft Palates and Occlusal Outcomes in Pierre Robin Sequence. ( 30325698 )
2018
26
Peripartum Management of Neonatal Pierre Robin Sequence. ( 30396414 )
2018
27
Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice. ( 30413887 )
2018
28
Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence. ( 30525013 )
2018
29
Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient. ( 28557592 )
2017
30
A Simple Mandibular Distraction Protocol to Avoid Tracheostomy in Patients With Pierre Robin Sequence. ( 26068388 )
2017
31
Identical twins with Pierre Robin syndrome; unusual encounter. ( 28713498 )
2017
32
BMPR1B mutation causes Pierre Robin sequence. ( 28418932 )
2017
33
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
34
A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome. ( 28790548 )
2017
35
Postoperative Respiratory Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations. ( 28938331 )
2017
36
Piezosurgery an Asset in Treatment of Pierre Robin Sequence. ( 28027184 )
2017
37
Gastrostomy Placement Rates in Infants with Pierre Robin Sequence: A Comparison of Tongue-Lip Adhesion and Mandibular Distraction Osteogenesis. ( 28027240 )
2017
38
Tongue-lip adhesion and tongue repositioning for obstructive sleep apnoea in Pierre Robin sequence: A systematic review and meta-analysis. ( 28193305 )
2017
39
Polysomnographic findings in infants with Pierre Robin sequence. ( 28197218 )
2017
40
Case report of Pierre Robin sequence with severe upper airway obstruction who was rescued by fiberoptic nasotracheal intubation. ( 28288578 )
2017
41
Airway and Feeding Outcomes of Mandibular Distraction, Tongue-Lip Adhesion, and Conservative Management in Pierre Robin Sequence: A Prospective Study. ( 28350680 )
2017
42
The effects of clinical factors on airway outcomes of mandibular distraction osteogenesis in children with Pierre Robin sequence. ( 28372992 )
2017
43
Flexible feeding obturator for early intervention in infants with Pierre Robin sequence. ( 28449865 )
2017
44
Recovering Breathing and Feeding of a Newborn with Pierre Robin Sequence. ( 28713745 )
2017
45
Can telemetry data obviate the need for sleep studies in Pierre Robin Sequence? ( 28802380 )
2017
46
Efficiency of prenatal diagnosis in Pierre Robin sequence. ( 28950416 )
2017
47
Airway Management in Pierre Robin Sequence: The Vancouver Classification. ( 29026807 )
2017
48
A comprehensive scoring system in correlation with perioperative airway management for neonatal Pierre Robin Sequence. ( 29216230 )
2017
49
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay. ( 29456481 )
2017
50
The management of Pierre Robin Sequence Part 1. ( 29727101 )
2017

Variations for Pierre Robin Syndrome

ClinVar genetic disease variations for Pierre Robin Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 12, 114971734: 114971744
2 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 19, 35769937: 35769968
3 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
4 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
5 CYBRD1; DLX1; DLX2; DYNC1I2; HAT1; METAP1D; SLC25A12 GRCh37/hg19 2q31.1(chr2: 172344870-173038935)x4 copy number gain Uncertain significance GRCh37 Chromosome 2, 172344870: 173038935
6 covers 27 genes, none of which curated to show dosage sensitivity NC_000017.10: g.(?_7124585)_(7400253_?)dup duplication Likely pathogenic GRCh37 Chromosome 17, 7124585: 7400253

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
13.61 MED13L RPL27 RPL35A RPL5 RPS17 RPS28
2
Show member pathways
13.31 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
3
Show member pathways
13.27 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
4
Show member pathways
13.2 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
5
Show member pathways
13 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
6
Show member pathways
12.24 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
7
Show member pathways
11.83 RPS17 RPS28 RPS29
8
Show member pathways
11.75 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29

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 9.85 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
2 focal adhesion GO:0005925 9.71 RPL27 RPL5 RPS17 RPS29
3 rough endoplasmic reticulum GO:0005791 9.5 RPL27 RPS28 RPS29
4 polysomal ribosome GO:0042788 9.46 RPS28 RPS29
5 small ribosomal subunit GO:0015935 9.43 RPS28 RPS29
6 cytosolic large ribosomal subunit GO:0022625 9.43 RPL27 RPL35A RPL5
7 cytosolic small ribosomal subunit GO:0022627 9.33 RPS17 RPS28 RPS29
8 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.13 RPL27 RPS28 RPS29
9 ribosome GO:0005840 9.1 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.73 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
2 rRNA processing GO:0006364 9.72 RPL27 RPL35A RPL5 RPS17 RPS28
3 translational initiation GO:0006413 9.63 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
4 cytoplasmic translation GO:0002181 9.54 RPL35A RPS28 RPS29
5 ribosomal large subunit biogenesis GO:0042273 9.43 RPL35A RPL5
6 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.43 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
7 ribosomal small subunit biogenesis GO:0042274 9.4 RPS17 RPS28
8 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.1 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29

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 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29
2 structural constituent of ribosome GO:0003735 9.1 RPL27 RPL35A RPL5 RPS17 RPS28 RPS29

Sources for Pierre Robin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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