MCID: ISL075
MIFTS: 29

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 rare disease with pierre robin syndrome and pierre robin 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 bone.

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 283)
# Related Disease Score Top Affiliating Genes
1 rare disease with pierre robin syndrome 32.8 MED13L EBF3
2 pierre robin syndrome 32.1 MED13L EBF3
3 alacrima, achalasia, and mental retardation syndrome 29.0 MED13L EBF3
4 corpus callosum, agenesis of, with facial anomalies and robin sequence 12.8
5 ventricular extrasystoles with syncope, perodactyly, and robin sequence 12.7
6 catel-manzke syndrome 12.6
7 thrombocytopenia robin sequence 12.6
8 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.5
9 radial defect robin sequence 12.5
10 pierre robin syndrome and oligodactyly 12.5
11 otospondylomegaepiphyseal dysplasia, autosomal dominant 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 pierre robin syndrome associated with bone disease 12.4
16 pierre robin syndrome associated with branchial archs anomalies 12.4
17 obsolete: syndrome associated with pierre robin syndrome 12.4
18 teratogenic pierre robin syndrome 12.4
19 sucking/swallowing disorder not related with pierre robin syndrome 12.4
20 obsolete: pierre robin syndrome associated with miscellaneous anomalies 12.4
21 genetic syndromic pierre robin syndrome 12.4
22 contractures-developmental delay-pierre robin syndrome 12.4
23 tarp syndrome 12.1
24 campomelic dysplasia 11.9
25 cerebrocostomandibular syndrome 11.6
26 stickler syndrome, type i 11.6
27 carey-fineman-ziter syndrome 11.5
28 stickler syndrome, type ii 11.5
29 stickler syndrome, type iv 11.5
30 stickler syndrome, type v 11.5
31 robin sequence with cleft mandible and limb anomalies 11.4
32 pierre robin sequence with facial and digital anomalies 11.4
33 robin sequence with distinctive facial appearance and brachydactyly 11.4
34 chitayat meunier hodgkinson syndrome 11.4
35 hypoglossia-hypodactylia 11.4
36 diamond-blackfan anemia 1 11.4
37 atelosteogenesis, type i 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 Approved, Nutraceutical 72-19-5 6288

Interventional clinical trials:

(show all 12)
# 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 Assessment of Feeding and Eating Disorders of Young Children : Standardisation of a New Tool, the Hetero-questionnaire Named ORALQUEST Not yet recruiting NCT04133038
12 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:

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

Publications for Isolated Pierre Robin Sequence

Articles related to Isolated Pierre Robin Sequence:

(show top 50) (show all 882)
# Title Authors PMID Year
1
Pierre Robin Sequence: Incidence of Speech-Correcting Surgeries and Fistula Formation. 61
31530001 2020
2
Safety of nasal stenting in pharyngeal flap surgery for pediatric velopharyngeal dysfunction. 61
31794903 2020
3
International Pediatric ORL Group (IPOG) Robin Sequence consensus recommendations. 61
31896499 2020
4
A retrospective study of patients with Robin sequence: Patient characteristics and their impact on clinical outcomes. 61
31734563 2020
5
Evaluation of Obstructive Sleep Apnea in Prone Versus Nonprone Body Positioning With Polysomnography in Infants With Robin Sequence. 61
31382772 2020
6
A Novel Geometric Morphometric Analytical Method for Classifying Mandibular Morphology in Infants With Isolated Pierre Robin Sequence. 61
32032530 2020
7
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. 61
31923704 2020
8
Airway Morphological Changes in Pierre Robin Sequence: A Retrospective Study. 61
31964165 2020
9
Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate? 61
31638729 2020
10
Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair. 61
31913900 2020
11
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
12
The Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate. 61
31725501 2020
13
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2019
14
Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features. 61
31915619 2019
15
Pierre Robin Sequence in a Child With Ectopic Kidney, Polysyndactyly, And Short Stature: A Case Report. 61
31903312 2019
16
Dynamical Changes of Mandible and Upper Airway After Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 61
31895862 2019
17
Optimal duration of mechanical ventilation and influencing factors following mandibular distraction osteogenesis in infants with Pierre Robin sequence. 61
31860988 2019
18
Stickler Syndrome: Airway Complications in a Case Series of 502 Patients. 61
31856005 2019
19
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. 61
31509347 2019
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
Catel-Manzke syndrome without Manzke dysostosis. 61
31833187 2019
23
Is Obstructive Apnea More Severe in Syndromic Than Nonsyndromic Patients With Robin Sequence? 61
31491418 2019
24
The Tübingen palatal plate approach to Robin sequence: Summary of current evidence. 61
31477439 2019
25
A comparison of airway interventions and gastrostomy tube placement in infants with Robin sequence. 61
31706715 2019
26
A clinical prediction rule to identify difficult intubation in children with Robin sequence requiring mandibular distraction osteogenesis based on craniofacial CT measures. 61
31752712 2019
27
The Reproducibility of the Jaw Index in the Measurement of Healthy Newborns. 61
31749374 2019
28
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. 61
31769200 2019
29
The Effect of Cleft Palate Repair on Polysomnography Results. 61
31739847 2019
30
Can Robin Sequence Be Predicted From Prenatal Ultrasonography? 61
31758942 2019
31
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
32
Neonatal Functional Treatment for Pierre Robin Sequence. 61
31565690 2019
33
Mid-Term Outcome of Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 61
31335579 2019
34
Cervical Stenosis in Non-Syndromic Pierre Robin Sequence. 61
31283644 2019
35
Kyphomelic dysplasia, Pierre Robin Sequence and pregnant. 61
30879933 2019
36
Expanding the phenotypic spectrum associated with DPF2: A new case report. 61
31207137 2019
37
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
38
Which Factors Affect Length of Stay and Readmission Rate in Mandibular Distraction Osteogenesis? 61
30980812 2019
39
Glossoptosis in Pierre Robin sequence. 61
29728421 2019
40
Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence? 61
30453768 2019
41
Comparative evaluation of Airtraq™ and GlideScope® videolaryngoscopes for difficult pediatric intubation in a Pierre Robin manikin. 61
31119438 2019
42
Methadone, Pierre Robin sequence and other congenital anomalies: case-control study. 61
31229957 2019
43
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. 61
30189253 2019
44
Sleep and respiratory outcomes in neonates with Pierre Robin sequence: a concise review. 61
31240543 2019
45
Mandibular growth in infants with Robin sequence treated with the Tübingen palatal plate. 61
31228944 2019
46
Assessment of Health-Related Quality of Life in Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion. 61
30789482 2019
47
Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice. 61
30413887 2019
48
Case report of neonate Pierre Robin sequence with severe upper airway obstruction who was rescued by finger guide intubation. 61
31117960 2019
49
Gabriele-de Vries Syndrome 61
31145572 2019
50
Pierre Robin Sequence. 61
30851756 2019

Variations for Isolated Pierre Robin Sequence

ClinVar genetic disease variations for Isolated Pierre Robin Sequence:

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 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 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
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