MCID: ISL075
MIFTS: 28

Isolated Pierre Robin Sequence

Aliases & Classifications for Isolated Pierre Robin Sequence

MalaCards integrated aliases for Isolated Pierre Robin Sequence:

Name: Isolated Pierre Robin Sequence 26
Robin Sequence 26 30 6
Glossoptosis, Micrognathia, and Cleft Palate 26
Pierre Robin Syndrome 26
Pierre-Robin Syndrome 26
Robin Syndrome 26

Summaries for Isolated Pierre Robin Sequence

Genetics Home Reference : 26 Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways. Most people with Pierre Robin sequence are also born with an opening in the roof of the mouth (a cleft palate). This feature is not generally considered necessary for diagnosis of the condition, although there is some disagreement among doctors.

MalaCards based summary : Isolated Pierre Robin Sequence, also known as robin sequence, is related to pierre robin syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Isolated Pierre Robin Sequence is EBF3 (EBF Transcription Factor 3). The drugs Cobalt and Temazepam have been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and testes.

Related Diseases for Isolated Pierre Robin Sequence

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 pierre robin syndrome 32.2 EBF3 MED13L
2 alacrima, achalasia, and mental retardation syndrome 29.0 EBF3 MED13L
3 corpus callosum, agenesis of, with facial anomalies and robin sequence 12.6
4 pierre robin syndrome and oligodactyly 12.6
5 ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence 12.6
6 thrombocytopenia robin sequence 12.5
7 pierre robin syndrome skeletal dysplasia polydactyly 12.3
8 contractures-developmental delay-pierre robin syndrome 12.3
9 catel-manzke syndrome 12.3
10 ventricular extrasystoles with syncope, perodactyly, and robin sequence 12.3
11 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.3
12 radial defect robin sequence 12.3
13 carey-fineman-ziter syndrome 12.3
14 short stature robin sequence cleft mandible hand anomalies clubfoot 12.2
15 otospondylomegaepiphyseal dysplasia, autosomal dominant 12.2
16 tarp syndrome 11.7
17 campomelic dysplasia 11.5
18 stickler syndrome, type i 11.4
19 stickler syndrome, type ii 11.3
20 stickler syndrome, type iv 11.3
21 stickler syndrome, type v 11.3
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 marshall syndrome 11.2
44 say syndrome 11.2
45 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.2
46 otopalatodigital syndrome, type ii 11.2
47 neuroendocrine neoplasm of appendix 10.4
48 sleep apnea 10.3
49 ankyloglossia 10.2
50 sacral defect with anterior meningocele 10.2

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



Diseases related to Isolated Pierre Robin Sequence

Symptoms & Phenotypes for Isolated Pierre Robin Sequence

Drugs & Therapeutics for Isolated Pierre Robin Sequence

Drugs for Isolated Pierre Robin Sequence (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:

(show all 11)
# 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 Analysis of Muscle Activity With Myofunctional Devices, Using Surface Electromyography Not yet recruiting NCT03863275 Not Applicable
11 Pierre Robin Sequence Outcome Assessment Multi Institutional Study Withdrawn NCT02432638

Search NIH Clinical Center for Isolated Pierre Robin Sequence

Genetic Tests for Isolated Pierre Robin Sequence

Genetic tests related to Isolated Pierre Robin Sequence:

# Genetic test Affiliating Genes
1 Robin Sequence 30

Anatomical Context for Isolated Pierre Robin Sequence

MalaCards organs/tissues related to Isolated Pierre Robin Sequence:

42
Tongue, Heart, Testes, Bone, Thymus

Publications for Isolated Pierre Robin Sequence

Articles related to Isolated Pierre Robin Sequence:

(show top 50) (show all 493)
# Title Authors Year
1
Kyphomelic dysplasia, Pierre Robin Sequence and pregnant - a. ( 30879933 )
2019
2
Stickler syndrome: a possible presentation of Pierre Robin sequence. ( 30709837 )
2019
3
Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. ( 29708799 )
2019
4
Mandibular Catch-Up Growth in Pierre Robin Sequence: A Systematic Review. ( 29727222 )
2019
5
A Single Lab Test to Aid Pierre Robin Sequence Severity Diagnosis. ( 29791187 )
2019
6
Novel dental phenotype in non-syndromic Pierre Robin Sequence: A retrospective study. ( 30391793 )
2019
7
Early Management of Infants With Robin Sequence: An International Survey and Algorithm. ( 30599883 )
2019
8
Assessment of Health-Related Quality of Life in Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion. ( 30789482 )
2019
9
Pierre Robin Sequence. ( 30851756 )
2019
10
Longitudinal Sleep Outcomes in Neonates With Pierre Robin Sequence Treated Conservatively. ( 30853035 )
2019
11
Understanding the Spectrum of Treatment Options for Infants With Pierre Robin Sequence and Airway Obstruction. ( 30853057 )
2019
12
Pierre Robin Sequence: Cost-Analysis and Qualitative Assessment of 89 Patients at the Hospital for Sick Children. ( 30854357 )
2019
13
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. ( 29159987 )
2018
14
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. ( 30524470 )
2018
15
Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. ( 30213438 )
2018
16
Epidemiology of Robin sequence with cleft palate in the East of Scotland between 2004 and 2013. ( 29736909 )
2018
17
Pathogenesis of Cleft Palate in Robin Sequence: Observations From Prenatal Magnetic Resonance Imaging. ( 29125932 )
2018
18
Letter to the Editor: Regarding "Airway Management in Pierre Robin Sequence: Patterns of Practice". ( 27441703 )
2018
19
Condylar positions before and after bilateral mandibular distraction osteogenesis in children with Pierre Robin sequence. ( 28826759 )
2018
20
Evaluation of the efficacy of tongue-lip adhesion in Pierre Robin sequence. ( 29195837 )
2018
21
Pierre Robin Sequence: An Evidence-Based Treatment Proposal. ( 29215441 )
2018
22
Predictors of speech outcomes in children with Pierre Robin sequence. ( 29317143 )
2018
23
Diagnosing Tongue Base Obstruction in Pierre Robin Sequence Infants: Sleep vs Awake Endoscopy. ( 29446988 )
2018
24
Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia. ( 29489401 )
2018
25
Mortality in Robin sequence: identification of risk factors. ( 29492661 )
2018
26
A Quantitative Analysis of Weight Gain Following Mandibular Distraction Osteogenesis in Robin Sequence. ( 29554059 )
2018
27
Algorithm for Airway Management in Patients With Pierre Robin Sequence. ( 29554066 )
2018
28
In Utero Glossoptosis in Fetuses With Robin Sequence: Measurements From Prenatal MRI. ( 29554458 )
2018
29
Pierre robin sequence with cervicothoracic kyphoscoliosis: An anesthetic challenge. ( 29643641 )
2018
30
The ontogeny of Robin sequence. ( 29696787 )
2018
31
Glossoptosis in Pierre Robin sequence. ( 29728421 )
2018
32
Pierre Robin sequence: A comprehensive narrative review of the literature over time. ( 29777780 )
2018
33
Impact of early intravelar veloplasty at six months on mandibular growth in patients with Pierre Robin Sequence. ( 29793779 )
2018
34
The effect of mandibular distraction osteogenesis on airway obstruction and polysomnographic parameters in children with Robin sequence. ( 29861406 )
2018
35
Surgical Management and Outcomes of Pierre Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion. ( 29870511 )
2018
36
Management of Airway Obstruction in Infants With Pierre Robin Sequence. ( 29922540 )
2018
37
Does Mandibular Distraction Change the Laryngoscopy Grade in Infants With Robin Sequence? ( 29957241 )
2018
38
Applicability of Orem: training of caregiver of infant with Robin Sequence. ( 29972549 )
2018
39
A generalized multistage approach to oral and nasal intubation in infants with Pierre Robin sequence: A retrospective review. ( 30284747 )
2018
40
Is Tongue-Lip Adhesion or Mandibular Distraction More Effective in Relieving Obstructive Apnea in Infants With Robin Sequence? ( 30315792 )
2018
41
Cleft Palates and Occlusal Outcomes in Pierre Robin Sequence. ( 30325698 )
2018
42
Tongue Lip Adhesion in the Treatment of Robin Sequence: Respiratory, Feeding, and Surgical Outcomes. ( 30339599 )
2018
43
Male individuals with Robin Sequence: emerging significant association with ABO and RhD blood group phenotypes. ( 30370413 )
2018
44
Peripartum Management of Neonatal Pierre Robin Sequence. ( 30396414 )
2018
45
Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice. ( 30413887 )
2018
46
Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence? ( 30453768 )
2018
47
Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence. ( 30525013 )
2018
48
Feeding practices and growth of infants with Pierre Robin Sequence. ( 30578989 )
2018
49
Impact of prone positioning in infants with Pierre Robin sequence: a polysomnography study. ( 30612069 )
2018
50
Current Trends in Surgical Airway Management of Neonates with Robin Sequence. ( 30881787 )
2018

Variations for Isolated Pierre Robin Sequence

ClinVar genetic disease variations for Isolated Pierre Robin Sequence:

6 (show all 13)
# 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 TNNT3 NM_006757.3(TNNT3): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs367658497 GRCh38 Chromosome 11, 1934905: 1934905
4 TNNT3 NM_006757.3(TNNT3): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs367658497 GRCh37 Chromosome 11, 1956135: 1956135
5 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance
6 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
7 46;XX;t(1;13)(p36.1;q12.1)dn Translocation Uncertain significance
8 46;XX;t(6;7;17)(p23;p22;q25)pat Translocation Uncertain significance
9 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance
10 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
11 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
12 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
13 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 Isolated Pierre Robin Sequence

Search GEO for disease gene expression data for Isolated Pierre Robin Sequence.

Pathways for Isolated Pierre Robin Sequence

GO Terms for Isolated Pierre Robin Sequence

Sources for Isolated Pierre Robin Sequence

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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