MCID: ISL062
MIFTS: 37

Isolated Plagiocephaly

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Plagiocephaly

MalaCards integrated aliases for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 58
Non-Syndromic Unicoronal Synostosis 58
Synostotic Plagiocephaly 58
Craniosynostosis 70

Characteristics:

Orphanet epidemiological data:

58
isolated plagiocephaly
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Isolated Plagiocephaly

MalaCards based summary : Isolated Plagiocephaly, also known as non-syndromic unicoronal synostosis, is related to plagiocephaly and craniosynostosis 1. An important gene associated with Isolated Plagiocephaly is TCF12 (Transcription Factor 12), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Tranexamic Acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are frontal bossing and facial asymmetry

Related Diseases for Isolated Plagiocephaly

Graphical network of the top 20 diseases related to Isolated Plagiocephaly:



Diseases related to Isolated Plagiocephaly

Symptoms & Phenotypes for Isolated Plagiocephaly

Human phenotypes related to Isolated Plagiocephaly:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
3 plagiocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001357
4 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
5 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
6 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
7 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
9 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
10 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
11 abnormality of eye movement 58 Frequent (79-30%)

Drugs & Therapeutics for Isolated Plagiocephaly

Drugs for Isolated Plagiocephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Coagulants Phase 4
3 Antifibrinolytic Agents Phase 4
4 Hemostatics Phase 4
5
Aminocaproic acid Approved, Investigational Phase 2 60-32-2 564
6
Acetaminophen Approved 103-90-2 1983
7
Tramadol Approved, Investigational 27203-92-5 33741
8
Levobupivacaine Approved, Investigational 27262-47-1 92253
9
Ferrous fumarate Approved 141-01-5
10
Iron Approved 7439-89-6 23925 29936
11
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
12
Imidacloprid Vet_approved 105827-78-9 86418
13 Analgesics
14 Calcium, Dietary
15 Anesthetics
16 Trace Elements
17 Nutrients
18 Epoetin alfa 113427-24-0
19 Micronutrients
20 Vitamins
21 Calciferol
22
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics/ Pharmacogenomics of a Reduced Dose of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 Tranexamic Acid for the Reduction of Allogeneic Blood Exposure in Infants and Children Having Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
3 Comparison of Allogenix Plus Demineralized Bone Matrix and Autogenous Bone Dust Versus Autogenous Bone Dust Alone in Ossification of Small Calvarial Defects, a Pilot Study. Withdrawn NCT01006148 Phase 4
4 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Undergoing Craniosynostosis Reconstruction: A Randomized Placebo-Controlled Double Blind Study of Low and High Dose Therapy Suspended NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
5 Efficacy of ε-Aminocaproic Acid (EACA) in Children Undergoing Craniofacial Reconstruction Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
6 Pharmacokinetics of Epsilon-Aminocaproic Acid in Children Undergoing Craniofacial Reconstruction Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
7 Investigating the Optimal Usage Time of Helmet in Babies With Deformational Plagiocephaly Unknown status NCT03430739
8 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
9 Craniosynostosis: How to Improve the Diagnosis and Assist Patients and Their Families? Completed NCT02287805
10 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
11 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
12 Postural Assessment in Children With Non-synostotic Plagiocephaly Completed NCT01989286
13 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
14 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
15 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Completed NCT00106977
16 Neurobehavioral Correlates of Craniosynostosis Completed NCT00077831
17 The Affect of Radiated Versus Non-Irradiated Blood on Extracellular Potassium Levels in Infants Undergoing Craniosynostosis Repair Completed NCT02483702
18 The Scalp Block for Postoperative Pain Control in Craniosynostosis Surgery: a Case Control Study Completed NCT04133467
19 Changes of Optic Nerve Sheath Diameter in Modified Prone Position in Craniosynostosis Children Completed NCT03131245
20 A Monocentric, Prospective Clinical Study to Evaluation of Cerebral Oxygen Saturation by Near InfraRed Spectroscopy (NIRS) in Children With Craniosynostosis Recruiting NCT04086056
21 Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child Recruiting NCT03231085 Ferrous fumarate or ferrostrane
22 Craniosynostosis Network Recruiting NCT03025763
23 Endoscopic Strip Craniectomy for Treatment of Isolated, Non-syndromic Sagittal Craniosynostosis Recruiting NCT04721769
24 Investigation of Anthropometric Properties of Babies With Craniosynostosis Recruiting NCT04827524
25 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Recruiting NCT03812159
26 Comparative Analysis of Zero Echo-time MRI and CT for Pediatric Craniosynostosis Enrolling by invitation NCT04704284
27 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR) Not yet recruiting NCT04159675
28 Neurodevelopmental Outcomes in Craniosynostosis Repair Not yet recruiting NCT04072783
29 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847

Search NIH Clinical Center for Isolated Plagiocephaly

Genetic Tests for Isolated Plagiocephaly

Anatomical Context for Isolated Plagiocephaly

MalaCards organs/tissues related to Isolated Plagiocephaly:

40
Eye, Bone

Publications for Isolated Plagiocephaly

Articles related to Isolated Plagiocephaly:

(show all 44)
# Title Authors PMID Year
1
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. 6
24736737 2014
2
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 6
23354436 2013
3
Virtual and augmented reality for preoperative planning in plastic surgical procedures: A systematic review. 61
32622713 2020
4
Diagnosis, Management, and Outcome in 9 Children with Unilateral Posterior Synostotic Plagiocephaly. 61
32389879 2020
5
Treatment of Deformational Plagiocephaly With Physiotherapy. 61
31232996 2019
6
A new method for cranial vault reconstruction: Augmented reality in synostotic plagiocephaly surgery. 61
31337569 2019
7
Effects of Initial Age and Severity on Cranial Remolding Orthotic Treatment for Infants with Deformational Plagiocephaly. 61
31344968 2019
8
Early Surgical Treatment in Anterior Synostotic Plagiocephaly: Is This the Best Choice? 61
30320675 2018
9
Quantitative analysis of cranial-orbital changes in infants with anterior synostotic plagiocephaly. 61
29761256 2018
10
Integrating new knowledge into practice: An evaluation study on a continuing education for Swedish child health nurses on non-synostotic plagiocephaly. 61
30062027 2018
11
Effect of head orthoses on skull deformities in positional plagiocephaly: Evaluation of a 3-dimensional approach. 61
29680682 2018
12
Helmet Treatment of Infants With Deformational Brachycephaly. 61
30349871 2018
13
Quantitative analysis of craniofacial dysmorphology in infants with anterior synostotic plagiocephaly. 61
27541866 2016
14
Repercussions of plagiocephaly on posture, muscle flexibility and balance in children aged 3-5 years old. 61
27329908 2016
15
Isolated Unilateral Frontosphenoidal Craniosynostosis: A Rare Cause of Anterior Plagiocephaly. 61
26267563 2015
16
Occipital plagiocephaly: unilateral lambdoid synostosis versus positional plagiocephaly. 61
25275089 2015
17
Identification of skull base sutures and craniofacial anomalies in children with craniosynostosis: utility of multidetector CT. 61
24510759 2014
18
Effectiveness and safety of independent pediatric nurse practitioners in evaluating plagiocephaly. 61
23897338 2013
19
Mandibular alterations and facial lower third asymmetries in unicoronal synostosis. 61
23274637 2013
20
Synostotic anterior plagiocephaly: a cause of familial congenital superior oblique muscle palsy. 61
24141756 2013
21
Posterior plagiocephaly. 61
22872253 2012
22
Unicoronal synostotic plagiocephaly: surgical correction: Lille's technique. 61
22872260 2012
23
Correlations between the abnormal development of the skull base and facial skeleton growth in anterior synostotic plagiocephaly: the predictive value of a classification based on CT scan examination. 61
21720819 2011
24
Nasal and ethmoidal alterations in anterior synostotic plagiocephaly. 61
21403535 2011
25
Divided parietal bone in plagiocephaly. 61
21239935 2011
26
Use of distraction osteogenesis to change endocranial morphology in unilateral coronal craniosynostosis patients. 61
20811231 2010
27
FGFR mutations and plagiocephaly. 61
18216705 2008
28
Anterior fontanelle morphology in unilateral coronal synostosis: a clear clinical (nonradiographic) sign for the diagnosis of frontal plagiocephaly. 61
17440369 2007
29
Three-dimensional computed tomography cephalometry of plagiocephaly: asymmetry and shape analysis. 61
16526926 2006
30
Paleopathological findings of dry skulls with plagiocephaly. 61
17438834 2006
31
Cranial distraction for plagiocephaly: quantitative morphologic analyses of cranium using three-dimensional computed tomography and a life-size model. 61
16077318 2005
32
Hybrid of distraction osteogenesis unilateral frontal distraction and supraorbital reshaping in correction of unilateral coronal synostosis. 61
15547381 2004
33
[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses]. 61
14577033 2003
34
Ophthalmologic findings in patients with nonsyndromic plagiocephaly. 61
12867869 2003
35
New insights into craniosynostosis. 61
12523552 2002
36
Congenital torticollis in association with craniosynostosis. 61
10361966 1999
37
Operative treatment of the anterior synostotic plagiocephaly: analysis of 45 cases. 61
9808253 1998
38
Synostotic plagiocephaly causing pseudoparalysis of the superior oblique and ocular torticollis: report of a case with unique sensory findings. 61
9852441 1998
39
The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding. 61
8823012 1996
40
Observations on a recent increase in plagiocephaly without synostosis. 61
8657530 1996
41
A classification of plagiocephaly utilizing a three-dimensional computer analysis of cranial base landmarks. 61
8743655 1996
42
[Cranial asymmetries. Reflexions on plagiocephalies. Premature sutural synostosis or extracranial origin?]. 61
7870251 1994
43
Ocular manifestations of deformational frontal plagiocephaly. 61
8501624 1993
44
[Plagiocephaly. Craniofacial asymmetry with variable curling-up]. 61
3237296 1988

Variations for Isolated Plagiocephaly

ClinVar genetic disease variations for Isolated Plagiocephaly:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCF12 NM_207037.2(TCF12):c.842C>G (p.Ser281Ter) SNV Pathogenic 55911 rs886037636 GRCh37: 15:57524926-57524926
GRCh38: 15:57232728-57232728
2 TCF12 NM_207037.2(TCF12):c.1491dup (p.Val498fs) Duplication Pathogenic 55912 rs886037637 GRCh37: 15:57554314-57554315
GRCh38: 15:57262116-57262117
3 TCF12 NM_207037.2(TCF12):c.722C>G (p.Ser241Ter) SNV Pathogenic 55913 rs398122381 GRCh37: 15:57524525-57524525
GRCh38: 15:57232327-57232327
4 TCF12 NM_207037.2(TCF12):c.1646del (p.Lys549fs) Deletion Pathogenic 55914 rs886037638 GRCh37: 15:57555370-57555370
GRCh38: 15:57263172-57263172
5 TCF12 NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter) SNV Pathogenic 55915 rs886037639 GRCh37: 15:57565445-57565445
GRCh38: 15:57273247-57273247
6 TCF12 NM_207037.2(TCF12):c.1035+3G>C SNV Pathogenic 55916 rs886037640 GRCh37: 15:57526308-57526308
GRCh38: 15:57234110-57234110
7 TCF12 NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu) SNV Pathogenic 55917 rs886037641 GRCh37: 15:57565394-57565394
GRCh38: 15:57273196-57273196
8 TCF12 NM_207037.2(TCF12):c.998_999CA[1] (p.Gln334fs) Microsatellite Pathogenic 127269 GRCh37: 15:57526268-57526269
GRCh38: 15:57234070-57234071
9 TCF12 NM_207037.2(TCF12):c.1071del (p.Ser358fs) Deletion Pathogenic 127270 GRCh37: 15:57535705-57535705
GRCh38: 15:57243507-57243507
10 TCF12 NM_207037.2(TCF12):c.1366dup (p.Ile456fs) Duplication Pathogenic 127271 GRCh37: 15:57545564-57545565
GRCh38: 15:57253366-57253367
11 TCF12 NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter) SNV Pathogenic 374377 rs758543580 GRCh37: 15:57565358-57565358
GRCh38: 15:57273160-57273160
12 TCF12 NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs) Deletion Pathogenic 436958 rs1555412971 GRCh37: 15:57555366-57555369
GRCh38: 15:57263168-57263171
13 TCF12 NM_207037.2(TCF12):c.786dup (p.Ser263fs) Duplication Pathogenic 692240 rs1597483678 GRCh37: 15:57524587-57524588
GRCh38: 15:57232389-57232390
14 TCF12 NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter) SNV Pathogenic 930393 GRCh37: 15:57554365-57554365
GRCh38: 15:57262167-57262167
15 TCF12 NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs) Deletion Pathogenic 984943 GRCh37: 15:57565386-57565387
GRCh38: 15:57273188-57273189
16 TCF12 NM_207037.2(TCF12):c.1035+5G>A SNV Pathogenic 235692 rs878853094 GRCh37: 15:57526310-57526310
GRCh38: 15:57234112-57234112
17 TCF12 NM_207037.2(TCF12):c.1838G>A (p.Arg613His) SNV Pathogenic/Likely pathogenic 127272 GRCh37: 15:57565320-57565320
GRCh38: 15:57273122-57273122
18 TCF12 NM_207037.2(TCF12):c.778_779del (p.Met260fs) Deletion Pathogenic/Likely pathogenic 871063 GRCh37: 15:57524581-57524582
GRCh38: 15:57232383-57232384
19 TCF12 NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) SNV Likely pathogenic 987901 GRCh37: 15:57565290-57565290
GRCh38: 15:57273092-57273092
20 TCF12 NM_207037.2(TCF12):c.801C>T (p.Gly267=) SNV Uncertain significance 1033291 GRCh37: 15:57524604-57524604
GRCh38: 15:57232406-57232406
21 TCF12 NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys) SNV Uncertain significance 982695 GRCh37: 15:57565319-57565319
GRCh38: 15:57273121-57273121
22 TCF12 NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln) SNV Uncertain significance 374376 rs1057518720 GRCh37: 15:57555447-57555447
GRCh38: 15:57263249-57263249
23 TCF12 NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) SNV not provided 489259 rs1555409014 GRCh37: 15:57543561-57543561
GRCh38: 15:57251363-57251363

Expression for Isolated Plagiocephaly

Search GEO for disease gene expression data for Isolated Plagiocephaly.

Pathways for Isolated Plagiocephaly

Pathways related to Isolated Plagiocephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 ZIC1 TWIST1 FGFR3

GO Terms for Isolated Plagiocephaly

Biological processes related to Isolated Plagiocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.33 ZIC1 TWIST1 TCF12
2 muscle organ development GO:0007517 8.96 TWIST1 TCF12
3 multicellular organism development GO:0007275 8.92 ZIC1 TWIST1 TCF12 FGFR3

Molecular functions related to Isolated Plagiocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 ZIC1 TWIST1 TCF12
2 DNA-binding transcription factor activity GO:0003700 9.33 ZIC1 TWIST1 TCF12
3 protein dimerization activity GO:0046983 9.26 TWIST1 TCF12
4 E-box binding GO:0070888 8.96 TWIST1 TCF12
5 bHLH transcription factor binding GO:0043425 8.62 TWIST1 TCF12

Sources for Isolated Plagiocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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