MCID: ISL075
MIFTS: 30

Isolated Pierre Robin Sequence

Aliases & Classifications for Isolated Pierre Robin Sequence

MalaCards integrated aliases for Isolated Pierre Robin Sequence:

Name: Isolated Pierre Robin Sequence 25
Robin Sequence 25 29 6
Glossoptosis, Micrognathia, and Cleft Palate 25
Pierre Robin Syndrome 25
Pierre-Robin Syndrome 25
Robin Syndrome 25

Summaries for Isolated Pierre Robin Sequence

Genetics Home Reference : 25 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. Some people have the features of Pierre Robin sequence as part of a syndrome that affects other organs and tissues in the body, such as Stickler syndrome or campomelic dysplasia. These instances are described as syndromic. When Pierre Robin sequence occurs by itself, it is described as nonsyndromic or isolated. Approximately 20 to 40 percent of cases of Pierre Robin sequence are isolated. This condition is described as a "sequence" because one of its features, underdevelopment of the lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue, and the abnormally positioned tongue can block the airways. In addition, micrognathia and glossoptosis affect formation of the palate during development before birth, which often leads to cleft palate. The combination of features characteristic of Pierre Robin sequence can lead to difficulty breathing and problems eating early in life. As a result, some affected babies have an inability to grow and gain weight at the expected rate (failure to thrive). In some children with Pierre Robin sequence, growth of the mandible catches up, and as adults these individuals have normal-sized chins.

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, bone and heart.

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 279)
# Related Disease Score Top Affiliating Genes
1 pierre robin syndrome 32.0 MED13L EBF3
2 alacrima, achalasia, and mental retardation syndrome 28.9 MED13L EBF3
3 corpus callosum, agenesis of, with facial anomalies and robin sequence 12.8
4 ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence 12.7
5 catel-manzke syndrome 12.6
6 thrombocytopenia robin sequence 12.6
7 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.5
8 radial defect robin sequence 12.5
9 pierre robin syndrome and oligodactyly 12.5
10 otospondylomegaepiphyseal dysplasia, autosomal dominant 12.4
11 ventricular extrasystoles with syncope, perodactyly, and robin sequence 12.4
12 pierre robin syndrome skeletal dysplasia polydactyly 12.4
13 pierre robin syndrome associated with collagen disease 12.4
14 pierre robin syndrome associated with a chromosomal anomaly 12.4
15 rare disease with pierre robin syndrome 12.4
16 pierre robin syndrome associated with bone disease 12.4
17 pierre robin syndrome associated with branchial archs anomalies 12.4
18 obsolete: syndrome associated with pierre robin syndrome 12.4
19 teratogenic pierre robin syndrome 12.4
20 sucking/swallowing disorder not related with pierre robin syndrome 12.4
21 obsolete: pierre robin syndrome associated with miscellaneous anomalies 12.4
22 genetic syndromic pierre robin syndrome 12.4
23 contractures-developmental delay-pierre robin syndrome 12.4
24 tarp syndrome 12.1
25 campomelic dysplasia 11.9
26 cerebrocostomandibular syndrome 11.6
27 stickler syndrome, type i 11.6
28 carey-fineman-ziter syndrome 11.5
29 stickler syndrome, type ii 11.5
30 stickler syndrome, type iv 11.5
31 stickler syndrome, type v 11.5
32 robin sequence with cleft mandible and limb anomalies 11.4
33 pierre robin sequence with facial and digital anomalies 11.4
34 robin sequence with distinctive facial appearance and brachydactyly 11.4
35 chitayat meunier hodgkinson syndrome 11.4
36 hypoglossia-hypodactylia 11.4
37 diamond-blackfan anemia 1 11.4
38 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.4
39 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.4
40 diamond-blackfan anemia 3 11.4
41 diamond-blackfan anemia 4 11.4
42 diamond-blackfan anemia 5 11.4
43 diamond-blackfan anemia 6 11.4
44 diamond-blackfan anemia 7 11.4
45 diamond-blackfan anemia 8 11.4
46 diamond-blackfan anemia 9 11.4
47 diamond-blackfan anemia 10 11.4
48 diamond-blackfan anemia 11 11.4
49 diamond-blackfan anemia 12 11.4
50 diamond-blackfan anemia 13 11.4

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 846-50-4 5391
3 threonine

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 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
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
8 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
9 Analysis of Muscle Activity With Myofunctional Devices, Using Surface Electromyography Not yet recruiting NCT03863275
10 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329
11 Pierre Robin Sequence Outcome Assessment Multi Institutional Study (PROMIS) 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 29

Anatomical Context for Isolated Pierre Robin Sequence

MalaCards organs/tissues related to Isolated Pierre Robin Sequence:

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

Publications for Isolated Pierre Robin Sequence

Articles related to Isolated Pierre Robin Sequence:

(show top 50) (show all 849)
# Title Authors PMID Year
1
Expanding the phenotypic spectrum associated with DPF2: A new case report. 38
31207137 2019
2
Minimal incision palatoplasty with or without muscle reconstruction in patients with isolated cleft palate-a cephalometric study at 5 and 10 years. 38
30445528 2019
3
Kyphomelic dysplasia, Pierre Robin Sequence and pregnant. 38
30879933 2019
4
Evaluation of Obstructive Sleep Apnea in Prone Versus Nonprone Body Positioning With Polysomnography in Infants With Robin Sequence. 38
31382772 2019
5
Which Factors Affect Length of Stay and Readmission Rate in Mandibular Distraction Osteogenesis? 38
30980812 2019
6
Glossoptosis in Pierre Robin sequence. 38
29728421 2019
7
Cervical Stenosis in Non-Syndromic Pierre Robin Sequence. 38
31283644 2019
8
Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence? 38
30453768 2019
9
Comparative evaluation of Airtraq™ and GlideScope® videolaryngoscopes for difficult pediatric intubation in a Pierre Robin manikin. 38
31119438 2019
10
Mid-Term Outcome of Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 38
31335579 2019
11
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. 38
30189253 2019
12
Sleep and respiratory outcomes in neonates with Pierre Robin sequence: a concise review. 38
31240543 2019
13
Methadone, Pierre Robin sequence and other congenital anomalies: case-control study. 38
31229957 2019
14
Mandibular growth in infants with Robin sequence treated with the Tübingen palatal plate. 38
31228944 2019
15
Assessment of Health-Related Quality of Life in Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion. 38
30789482 2019
16
Case report of neonate Pierre Robin sequence with severe upper airway obstruction who was rescued by finger guide intubation. 38
31117960 2019
17
Gabriele-de Vries Syndrome 38
31145572 2019
18
Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice. 38
30413887 2019
19
Pierre Robin Sequence. 38
30851756 2019
20
Clinical attitude to the patient with Non-syndromic Pierre Robin Sequence with the cleft of soft palate and uvula - The necessity of fibroscopic investigation. 38
31184816 2019
21
[How I treat : airway obstruction in children with sequence of Pierre Robin]. 38
30897309 2019
22
Longitudinal Sleep Outcomes in Neonates With Pierre Robin Sequence Treated Conservatively. 38
30853035 2019
23
Understanding the Spectrum of Treatment Options for Infants With Pierre Robin Sequence and Airway Obstruction. 38
30853057 2019
24
A Single Lab Test to Aid Pierre Robin Sequence Severity Diagnosis. 38
29791187 2019
25
Feeding practices and growth of infants with Pierre Robin Sequence. 38
30578989 2019
26
Is Tongue-Lip Adhesion or Mandibular Distraction More Effective in Relieving Obstructive Apnea in Infants With Robin Sequence? 38
30315792 2019
27
Three-dimensional printing of surgical guides for mandibular distraction osteogenesis in infancy. 38
30855473 2019
28
Infant Midnasal Stenosis: Reliability of Nasal Metrics. 38
30765383 2019
29
Pierre Robin Sequence: Cost-Analysis and Qualitative Assessment of 89 Patients at the Hospital for Sick Children. 38
30854357 2019
30
Does Mandibular Distraction Change the Laryngoscopy Grade in Infants With Robin Sequence? 38
29957241 2019
31
Mandibular Catch-Up Growth in Pierre Robin Sequence: A Systematic Review. 38
29727222 2019
32
Imaging Findings in Syndromes with Temporal Bone Abnormalities. 38
30466636 2019
33
Cleft Palates and Occlusal Outcomes in Pierre Robin Sequence. 38
30325698 2019
34
Impact of prone positioning in infants with Pierre Robin sequence: a polysomnography study. 38
30612069 2019
35
Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. 38
29708799 2019
36
[Modified palatoplasty for children of Pierre Robin sequence with cleft palate:clinical analysis of 12 consecutive cases]. 38
31384910 2019
37
Novel dental phenotype in non-syndromic Pierre Robin Sequence: A retrospective study. 38
30391793 2019
38
Stickler syndrome: a possible presentation of Pierre Robin sequence. 38
30709837 2019
39
Early Management of Infants With Robin Sequence: An International Survey and Algorithm. 38
30599883 2019
40
Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. 38
30213438 2019
41
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. 38
30450804 2018
42
Peripartum Management of Neonatal Pierre Robin Sequence. 38
30396414 2018
43
First reported adult patient with TARP syndrome: A case report. 38
30462380 2018
44
Unmasking familial CPX by WES and identification of novel clinical signs. 38
30462376 2018
45
Current Trends in Surgical Airway Management of Neonates with Robin Sequence. 38
30881787 2018
46
Pierre Robin sequence: A comprehensive narrative review of the literature over time. 38
29777780 2018
47
A generalized multistage approach to oral and nasal intubation in infants with Pierre Robin sequence: A retrospective review. 38
30284747 2018
48
Objectifying Micrognathia Using Three-Dimensional Photogrammetric Analysis. 38
30320700 2018
49
Tongue Lip Adhesion in the Treatment of Robin Sequence: Respiratory, Feeding, and Surgical Outcomes. 38
30339599 2018
50
Male individuals with Robin Sequence: emerging significant association with ABO and RhD blood group phenotypes. 38
30370413 2018

Variations for Isolated Pierre Robin Sequence

ClinVar genetic disease variations for Isolated Pierre Robin Sequence:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
2 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic
3 EBF3 NM_001005463.3(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 10:131755588-131755588 10:129957324-129957324
4 covers 27 genes, none of which curated to show dosage sensitivity duplication Likely pathogenic 17:7124585-7400253 :0-0
5 46;XX;t(1;13)(p36.1;q12.1)dn Translocation Uncertain significance
6 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance
7 CYBRD1 ; DLX1 ; DLX2 ; DYNC1I2 ; HAT1 ; METAP1D ; SLC25A12 GRCh37/hg19 2q31.1(chr2: 172344870-173038935)x4 copy number gain Uncertain significance 2:172344870-173038935 :0-0
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 TNNT3 NM_006757.4(TNNT3): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs367658497 11:1956135-1956135 11:1934905-1934905

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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