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, 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 278)
# Related Disease Score Top Affiliating Genes
1 rare disease with pierre robin syndrome 32.9 MED13L EBF3
2 pierre robin syndrome 32.2 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 12.6
9 radial defect robin sequence 12.6
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 teratogenic pierre robin syndrome 12.4
18 sucking/swallowing disorder not related with pierre robin syndrome 12.4
19 genetic syndromic pierre robin syndrome 12.4
20 contractures-developmental delay-pierre robin syndrome 12.4
21 tarp syndrome 12.2
22 campomelic dysplasia 11.8
23 cerebrocostomandibular syndrome 11.6
24 stickler syndrome, type i 11.6
25 carey-fineman-ziter syndrome 11.5
26 stickler syndrome, type ii 11.5
27 stickler syndrome, type iv 11.5
28 stickler syndrome, type v 11.5
29 robin sequence with cleft mandible and limb anomalies 11.4
30 pierre robin sequence with facial and digital anomalies 11.4
31 robin sequence with distinctive facial appearance and brachydactyly 11.4
32 chitayat meunier hodgkinson syndrome 11.4
33 hypoglossia-hypodactylia 11.4
34 diamond-blackfan anemia 1 11.4
35 atelosteogenesis, type i 11.4
36 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.4
37 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.4
38 diamond-blackfan anemia 3 11.4
39 diamond-blackfan anemia 4 11.4
40 diamond-blackfan anemia 5 11.4
41 diamond-blackfan anemia 6 11.4
42 diamond-blackfan anemia 7 11.4
43 diamond-blackfan anemia 8 11.4
44 diamond-blackfan anemia 9 11.4
45 diamond-blackfan anemia 10 11.4
46 diamond-blackfan anemia 11 11.4
47 diamond-blackfan anemia 12 11.4
48 diamond-blackfan anemia 13 11.4
49 diamond-blackfan anemia 16 11.4
50 diamond-blackfan anemia 17 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):

(show all 6)
# 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
Levobupivacaine Approved, Investigational 27262-47-1 92253
4
Ropivacaine Approved 84057-95-4 71273 175805
5
Threonine Approved, Nutraceutical 72-19-5 6288
6 Analgesics

Interventional clinical trials:

(show all 14)
# 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 Usefulness of Cephalometry in the Second and Third Trimester of Pregnancy in the Diagnosis of Fetal Microretrognathia : Prenatal Cephal Completed NCT04422067
6 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
7 Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence Recruiting NCT03194178
8 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017
9 Evaluation of Postoperative Analgesic Effects of Infraorbital Nerve Block by Levobupivacaine vs Ropivacaine After Cleft Palate Surgery: A Double-blinded Randomized Trial Recruiting NCT04212611 INFRA ORBITAL BLOCK
10 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
11 Analysis of Muscle Activity With Myofunctional Devices, Using Surface Electromyography Not yet recruiting NCT03863275
12 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329
13 Assessment of Feeding and Eating Disorders of Young Children : Standardisation of a New Tool, the Hetero-questionnaire Named ORALQUEST Not yet recruiting NCT04133038
14 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, Bone, Heart, Lung, Testes, Eye, Thymus

Publications for Isolated Pierre Robin Sequence

Articles related to Isolated Pierre Robin Sequence:

(show top 50) (show all 905)
# Title Authors PMID Year
1
Airway Morphological Changes in Pierre Robin Sequence: A Retrospective Study. 61
31964165 2020
2
Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion. 61
32399800 2020
3
A comparison of airway interventions and gastrostomy tube placement in infants with Robin sequence. 61
31706715 2020
4
Technical note on introducing a digital workflow for newborns with craniofacial anomalies based on intraoral scans - part II: 3D printed Tübingen palatal plate prototype for newborns with Robin sequence. 61
32546229 2020
5
Family Experience With Pierre Robin Sequence: A Qualitative Study. 61
32174155 2020
6
Weight gain in infants with Pierre Robin sequence. 61
32317138 2020
7
Neonatal Mandibular Distraction Osteogenesis in Infants With Pierre Robin Sequence. 61
32209938 2020
8
Total facial nerve injury during mandibular distraction osteogenesis. 61
32563840 2020
9
Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations). 61
32217860 2020
10
Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair. 61
31913900 2020
11
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 61
32424177 2020
12
Parental experiences and genetic counsellor roles in Pierre Robin sequence. 61
32372164 2020
13
Weight Gain in Infants With Pierre Robin Sequence in the First Year of Life. 61
32427506 2020
14
Orthodontic and Surgical Principles for Distraction Osteogenesis in Children with Pierre-Robin Sequence. 61
32247440 2020
15
Imaging of the Fetal Zygomatic Bone: A Key Role in Prenatal Diagnosis of First Branchial Arch Syndrome. 61
32378755 2020
16
The Reproducibility of the Jaw Index in the Measurement of Healthy Newborns. 61
31749374 2020
17
Alveolar Rhabdomyosarcoma Following Mandibular Distraction Osteogenesis. 61
31895866 2020
18
A Novel Geometric Morphometric Analytical Method for Classifying Mandibular Morphology in Infants With Isolated Pierre Robin Sequence. 61
32032530 2020
19
[The derivation and vulidafion of a prediction rule for hypoxemia in infants with Pierre Robin sequence after weaning]. 61
32311884 2020
20
Longer upper airway lengths in Robin Sequence: A case-control study using computed tomography. 61
32277728 2020
21
Can Robin Sequence Be Predicted From Prenatal Ultrasonography? 61
31758942 2020
22
Quantification of Mandibular Morphology in Pierre Robin Sequence to Optimize Mandibular Distraction Osteogenesis. 61
32253927 2020
23
Floating Bone Phenomenon in Pierre Robin Sequence. 61
32282671 2020
24
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. 61
31923704 2020
25
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2020
26
The role of sleep laboratory polygraphy in the evaluation of obstructive sleep apnea syndrome in Robin infants. 61
32554055 2020
27
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
28
Pierre Robin Sequence: Incidence of Speech-Correcting Surgeries and Fistula Formation. 61
31530001 2020
29
Sleep and respiratory outcomes in neonates with Pierre Robin sequence: a concise review. 61
31240543 2020
30
Dynamical Changes of Mandible and Upper Airway After Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 61
31895862 2020
31
Safety of nasal stenting in pharyngeal flap surgery for pediatric velopharyngeal dysfunction. 61
31794903 2020
32
Methadone, Pierre Robin sequence and other congenital anomalies: case-control study. 61
31229957 2020
33
An innovative method for manufacturing the Tuebingen palatal plate for infants with Robin sequence. 61
32126980 2020
34
Catel-Manzke syndrome without Manzke dysostosis. 61
31833187 2020
35
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. 61
31769200 2020
36
International Pediatric ORL Group (IPOG) Robin Sequence consensus recommendations. 61
31896499 2020
37
A retrospective study of patients with Robin sequence: Patient characteristics and their impact on clinical outcomes. 61
31734563 2020
38
Imaging characteristics of the mandible and upper airway in children with Robin sequence and relationship to the treatment strategy. 61
32089444 2020
39
Evaluation of Obstructive Sleep Apnea in Prone Versus Nonprone Body Positioning With Polysomnography in Infants With Robin Sequence. 61
31382772 2020
40
17-year Follow-up after Mandibular Distraction Performed in an Infant with Robin Sequence. 61
32309094 2020
41
Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate? 61
31638729 2020
42
The Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate. 61
31725501 2020
43
Macrodontia Associated with Mandibular Distraction Osteogenesis. 61
32151311 2020
44
Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat. 61
32467733 2020
45
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis. 61
32333597 2020
46
Pierre Robin Sequence in a Child With Ectopic Kidney, Polysyndactyly, And Short Stature: A Case Report. 61
31903312 2019
47
Optimal duration of mechanical ventilation and influencing factors following mandibular distraction osteogenesis in infants with Pierre Robin sequence. 61
31860988 2019
48
Stickler Syndrome: Airway Complications in a Case Series of 502 Patients. 61
31856005 2019
49
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. 61
31509347 2019
50
Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features. 61
31915619 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 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
2 46;XX;ins(5;6)(p13;p24p25)dnTranslocation Pathogenic 267851
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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