Aliases & Classifications for Plagiocephaly

Summaries for Plagiocephaly

MalaCards based summary : Plagiocephaly is related to isolated plagiocephaly and muenke syndrome. An important gene associated with Plagiocephaly is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways are Regulation of actin cytoskeleton and Negative regulation of FGFR1 signaling. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and tongue, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and cardiovascular system

Wikipedia : 73 Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical... more...

Related Diseases for Plagiocephaly

Diseases related to Plagiocephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 isolated plagiocephaly 31.7 TWIST1 FGFR3
2 muenke syndrome 30.8 TWIST1 FGFR3 FGFR2 FGFR1
3 synostosis 30.5 TWIST1 FGFR3 FGFR2 FGFR1
4 craniosynostosis 30.4 TWIST1 FGFR3 FGFR2 FGFR1
5 strabismus 30.2 TWIST1 FGFR3 FGFR2
6 craniosynostosis 1 29.9 TWIST1 FGFR3 FGFR2
7 fgfr craniosynostosis syndromes 29.7 FGFR3 FGFR2 FGFR1
8 syndromic craniosynostosis 29.2 TWIST1 FGFR3 FGFR2 FGFR1
9 crouzon syndrome 29.2 TWIST1 FGFR3 FGFR2 FGFR1
10 dysostosis 29.2 TWIST1 FGFR3 FGFR2 FGFR1
11 hypertelorism 29.2 TWIST1 SCN1A LOC102724058 FGFR2
12 apert syndrome 29.0 TWIST1 FGFR3 FGFR2 FGFR1
13 cleft palate, isolated 28.9 TWIST1 NIPBL FGFR3 FGFR2 FGFR1
14 chromosome 2q35 duplication syndrome 28.6 TWIST1 NIPBL FGFR3 FGFR2 FGFR1
15 x-linked intellectual disability-plagiocephaly syndrome 11.4
16 mental retardation, x-linked, with craniofacial dysmorphism 11.1
17 lambdoid synostosis 11.0
18 faciocardiorenal syndrome 10.9
19 brachycephaly, deafness, cataract, microstomia, and mental retardation 10.9
20 49, xxxxx 10.9
21 iqsec2 10.9
22 torticollis 10.7
23 sudden infant death syndrome 10.5
24 mechanical strabismus 10.4
25 congenital torticollis 10.3
26 acanthosis nigricans 10.2 FGFR3 FGFR2
27 hemifacial hyperplasia 10.2 FGFR3 FGFR2
28 testicular spermatocytic seminoma 10.2 FGFR3 FGFR2
29 dacryocystocele 10.2 FGFR3 FGFR2
30 chronic inflammation of lacrimal passage 10.2 FGFR3 FGFR2
31 luteoma 10.2 FGFR3 FGFR2
32 acanthoma 10.2 FGFR3 FGFR2
33 beare-stevenson cutis gyrata syndrome 10.2 FGFR3 FGFR2
34 synovial chondromatosis 10.2 FGFR3 FGFR1
35 hepatocellular clear cell carcinoma 10.2 FGFR2 FGFR1
36 osteochondroma 10.2 FGFR3 FGFR1
37 pigmentation disease 10.2 FGFR3 FGFR2
38 chondroblastoma 10.1 FGFR3 FGFR1
39 carpenter syndrome 1 10.1 FGFR3 FGFR2
40 mitochondrial dna depletion syndrome 5 10.1 POLG FGFR3
41 hydrocephalus 10.1
42 fibrolamellar carcinoma 10.1 FGFR2 FGFR1
43 schimmelpenning-feuerstein-mims syndrome 10.1 FGFR3 FGFR1
44 megalencephaly, autosomal dominant 10.0 SCN1A LOC102724058
45 megalencephaly 10.0 SCN1A LOC102724058
46 myoclonic epilepsy of infancy 10.0 SCN1A LOC102724058
47 genetic epilepsy with febrile seizures plus 10.0 SCN1A LOC102724058
48 scn1a seizure disorders 10.0 SCN1A LOC102724058
49 ankylosis 10.0 FGFR2 FGFR1
50 achondroplasia 10.0 FGFR3 FGFR2 FGFR1

Graphical network of the top 20 diseases related to Plagiocephaly:



Diseases related to Plagiocephaly

Symptoms & Phenotypes for Plagiocephaly

GenomeRNAi Phenotypes related to Plagiocephaly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.8 FGFR1 FGFR2 FGFR3

MGI Mouse Phenotypes related to Plagiocephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 FGFR1 FGFR2 NIPBL POLG SCN1A TWIST1
2 growth/size/body region MP:0005378 9.91 FGFR1 FGFR2 FGFR3 NIPBL POLG SCN1A
3 craniofacial MP:0005382 9.83 FGFR1 FGFR2 FGFR3 NIPBL TWIST1
4 digestive/alimentary MP:0005381 9.8 FGFR1 FGFR2 FGFR3 POLG TWIST1
5 hearing/vestibular/ear MP:0005377 9.72 FGFR1 FGFR2 FGFR3 NIPBL POLG
6 nervous system MP:0003631 9.7 FGFR1 FGFR2 FGFR3 NIPBL POLG SCN1A
7 limbs/digits/tail MP:0005371 9.65 FGFR1 FGFR2 FGFR3 NIPBL TWIST1
8 normal MP:0002873 9.35 FGFR1 FGFR2 FGFR3 NIPBL SCN1A
9 skeleton MP:0005390 9.1 FGFR1 FGFR2 FGFR3 NIPBL POLG TWIST1

Drugs & Therapeutics for Plagiocephaly

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved 1401-55-4
2
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
3
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
4 Skullcap

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Comparison the Effectiveness Control Frequency of Physiotherapy Home Program on Deformational Plagiocephaly Unknown status NCT02607969
2 Investigating the Optimal Usage Time of Helmet in Babies With Deformational Plagiocephaly Unknown status NCT03430739
3 A Randomized Controlled Study in the Efficiency of Soft Tissue Mobilization in Babies With Congenital Muscular Torticollis and Deformational Plagiocephaly Unknown status NCT02403011
4 Cranial Orthotic Device Versus Repositioning Techniques for the Management of Plagiocephaly: the CRANIO Randomized Trial Unknown status NCT02370901
5 Efficacy of Pediatric Manual Therapy in the Positional Plagiocephaly Completed NCT03659032
6 Effectiveness of Osteopathic Manipulative Therapy in Nonsynostotic Plagiocephaly Completed NCT03970395
7 Brain Characteristics Noted Prior to and Following Treatment of Deformational Plagiocephaly With a Helmet Completed NCT02392195
8 Premie Pouch to Manage Deformational Plagiocephaly in Very Low Birth Weight Infants Completed NCT03184441
9 Postural Assessment in Children With Non-synostotic Plagiocephaly Completed NCT01989286
10 Efficacy of Pediatric Integrative Manual Therapy in Babies With Deformational Plagiocephaly and Congenital Muscular Torticollis Recruiting NCT04672837
11 Interest of an Early Osteopathic Treatment in Infants in the Prevention of Cranial Deformations : Positional Plagiocephaly and Brachycephaly. Recruiting NCT03780920
12 Newborn Head Molding and Later Asymmetries in Follow up (3D Head Shape Modelling) Active, not recruiting NCT02283229
13 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087
14 Prospective Study to Evaluate Effectiveness of the Hanger Helmet vs the P Pod Helmet in Improving the Head and Face Symmetry Withdrawn NCT02561728

Search NIH Clinical Center for Plagiocephaly

Genetic Tests for Plagiocephaly

Genetic tests related to Plagiocephaly:

# Genetic test Affiliating Genes
1 Plagiocephaly 29

Anatomical Context for Plagiocephaly

MalaCards organs/tissues related to Plagiocephaly:

40
Bone, Eye, Tongue, Lung, Skin, Placenta

Publications for Plagiocephaly

Articles related to Plagiocephaly:

(show top 50) (show all 914)
# Title Authors PMID Year
1
Increased Incidence of Ophthalmologic Findings in Children With Concurrent Isolated Nonsyndromic Metopic Suture Abnormalities and Deformational Cranial Vault Asymmetry. 61
32929979 2021
2
New diagnostic approach of the different types of isolated craniosynostosis. 61
33151409 2021
3
Reliable classification of intentional cranial vault modification and nonsynostotic deformational plagiocephaly using 3D geometric morphometrics. 61
33656511 2021
4
Do Infant Motor Skills Mediate the Association Between Positional Plagiocephaly/Brachycephaly and Cognition in School-Aged Children? 61
33340327 2021
5
Subjective perception of craniofacial growth asymmetries in patients with deformational plagiocephaly. 61
32607831 2021
6
Osteopathic Treatment of Infants in Their First Year of Life: A Prospective Multicenter Observational Study (OSTINF Study). 61
33601373 2021
7
Effectiveness of pediatric integrative manual therapy in cervical movement limitation in infants with positional plagiocephaly: a randomized controlled trial. 61
33632268 2021
8
Association of Positional Plagiocephaly and Developmental Delay Within a Primary Care Network. 61
33538454 2021
9
Evaluation of positional cranial deformities: the non-expert perspective. 61
32660811 2021
10
The Effect of Cranial Shape on Esthetic Self-Worth in Bald Men. 61
32833829 2021
11
Analysis of cranial type characteristics in term infants: a multi-center study. 61
33468075 2021
12
Fibromatosis colli leading to positional plagiocephaly with gross anatomical and sonographic correlation. 61
33431471 2021
13
Assessing the quality of life in infants with deformational plagiocephaly. 61
33239212 2021
14
Evaluation of the Molding Helmet Therapy for Japanese Infants with Deformational Plagiocephaly. 61
33575503 2021
15
Complications Due to Cranial Distraction for Craniosynostosis. 61
33156168 2021
16
Distinguishing Craniomorphometric Characteristics of Unilateral Lambdoid Craniosynostosis. 61
33156173 2021
17
Isolated Frontosphenoidal Craniosynostosis: The Alder Hey Experience and a Novel Algorithm to Aid Diagnosis. 61
33055560 2021
18
Nonsynostotic Plagiocephaly: Prevention Strategies in Child Health Care. 61
33291382 2020
19
Distinguishing Between Lambdoid Craniosynostosis and Deformational Plagiocephaly: A Review of This Paradigm Shift in Clinical Decision-Making and Lesson for the Future. 61
33456695 2020
20
A Tribute to Ian Jackson: Current Controversies in Craniosynostosis Research. 61
33306645 2020
21
Interrater and Intrarater Reliability of Cranial Anthropometric Measurements in Infants with Positional Plagiocephaly. 61
33348822 2020
22
Virtual and augmented reality for preoperative planning in plastic surgical procedures: A systematic review. 61
32622713 2020
23
Distribution, side involvement, phenotype and associated anomalies of Korean patients with craniofacial clefts from single university hospitalbased data obtained during 1998-2018. 61
33144527 2020
24
Safe Sleep, Plagiocephaly, and Brachycephaly: Assessment, Risks, Treatment, and When to Refer. 61
33034660 2020
25
Introducing a new method for classifying skull shape abnormalities related to craniosynostosis. 61
32303825 2020
26
Novel Suturectomy Using Absorbable Plates in Early Surgery for Craniosynostosis. 61
32890152 2020
27
A case report: resolution of Chiari I malformation after helmet therapy for deformational brachycephaly. 61
33009608 2020
28
Prioritizing Pediatricians' Neurosurgical Education: Results From a National Survey of Primary Care Pediatricians. 61
32475161 2020
29
Perceptions and Preferences of Laypersons in the Management of Positional Plagiocephaly. 61
32487828 2020
30
Identifying the Misshapen Head: Craniosynostosis and Related Disorders. 61
32868470 2020
31
Combining deep learning with 3D stereophotogrammetry for craniosynostosis diagnosis. 61
32948813 2020
32
Craniofacial growth in infants with deformational plagiocephaly: does prematurity affect the duration of head orthosis therapy and the extent of the reduction in asymmetry during treatment? 61
31811494 2020
33
Applicative Factors of Helmet Molding Therapy in Late-diagnosed Positional Plagiocephaly. 61
32924339 2020
34
The relevance of an integrated neuro-evolutive approach in the plagiocephaly infant treatment. 61
32914609 2020
35
Extraocular muscle positions in anterior plagiocephaly: V-pattern strabismus explained using geometric mophometrics. 61
31694836 2020
36
Diagnosis, Management, and Outcome in 9 Children with Unilateral Posterior Synostotic Plagiocephaly. 61
32389879 2020
37
Average Models and 3-dimensional Growth Patterns of the Healthy Infant Cranium. 61
32983787 2020
38
Single-suture craniosynostosis: is there a correlation between preoperative ophthalmological, neuroradiological, and neurocognitive findings? 61
32006097 2020
39
Neurodevelopmental delay according to severity of deformational plagiocephaly in children. 61
32664163 2020
40
Positional plagiocephaly from structure to function: Clinical experience of the service of pediatric osteopathy in Italy. 61
32450443 2020
41
Deformational Plagiocephaly and Reduced Cervical Range of Motion: A Pediatric Case Series in a Chiropractic Clinic. 61
32663178 2020
42
Two-Dimensional Image-Based Screening Tool for Infants with Positional Cranial Deformities: A Machine Learning Approach. 61
32707742 2020
43
Recommendations for management of neonatal brachial plexus palsy: Based on clinical review. 61
32151504 2020
44
Tummy Time and Infant Health Outcomes: A Systematic Review. 61
32371428 2020
45
Impact of the Use of the Beanie on the Neurodevelopmental Outcomes of Preterm Infants With Plagiocephaly: A Pilot Study. 61
32699711 2020
46
Assessment of facial and cranial symmetry in infants with deformational plagiocephaly undergoing molding helmet therapy. 61
32389552 2020
47
Computer-assisted craniometric evaluation for diagnosis and follow-up of craniofacial asymmetries: SymMetric v. 1.0. 61
31820081 2020
48
Isolated Frontosphenoidal Suture Craniosynostosis: Treatment Approaches and Literature Review for a Unique Condition. 61
32209929 2020
49
The effectiveness and safety of conservative interventions for positional plagiocephaly and congenital muscular torticollis: a synthesis of systematic reviews and guidance. 61
32522230 2020
50
Value of Presurgical Virtual Planning for the Treatment of Plagiocephaly. 61
32011539 2020

Variations for Plagiocephaly

ClinVar genetic disease variations for Plagiocephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NIPBL NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu) SNV Likely pathogenic 978555 GRCh37: 5:36976061-36976061
GRCh38: 5:36975959-36975959
2 POLG NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) SNV Uncertain significance 458712 rs140079523 GRCh37: 15:89862193-89862193
GRCh38: 15:89318962-89318962
3 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) SNV Likely benign 68638 rs121918808 GRCh37: 2:166850674-166850674
GRCh38: 2:165994164-165994164

Expression for Plagiocephaly

Search GEO for disease gene expression data for Plagiocephaly.

Pathways for Plagiocephaly

Pathways related to Plagiocephaly according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1 12.35 FGFR3 FGFR2 FGFR1
2
Show member pathways
12.29 FGFR3 FGFR2 FGFR1
3
Show member pathways
12.2 FGFR3 FGFR2 FGFR1
4
Show member pathways
12.15 FGFR3 FGFR2 FGFR1
5
Show member pathways
12.1 FGFR3 FGFR2 FGFR1
6
Show member pathways
12.09 FGFR3 FGFR2 FGFR1
7 12.07 FGFR3 FGFR2 FGFR1
8
Show member pathways
12.06 FGFR3 FGFR2 FGFR1
9
Show member pathways
12.02 FGFR3 FGFR2 FGFR1
10
Show member pathways
11.98 FGFR3 FGFR2 FGFR1
11
Show member pathways
11.94 FGFR3 FGFR2 FGFR1
12
Show member pathways
11.92 FGFR3 FGFR2 FGFR1
13
Show member pathways
11.81 FGFR3 FGFR2 FGFR1
14 11.75 FGFR3 FGFR2 FGFR1
15 11.7 FGFR3 FGFR2 FGFR1
16 11.45 FGFR3 FGFR2 FGFR1
17 11.45 FGFR3 FGFR2 FGFR1
18 11.28 FGFR3 FGFR2 FGFR1
19 11.24 FGFR2 FGFR1
20 10.99 FGFR3 FGFR2 FGFR1
21 10.93 TWIST1 FGFR3 FGFR2 FGFR1
22 10.77 FGFR3 FGFR2 FGFR1

GO Terms for Plagiocephaly

Cellular components related to Plagiocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 FGFR3 FGFR2 FGFR1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 TWIST1 NIPBL FGFR3 FGFR2 FGFR1
2 MAPK cascade GO:0000165 9.74 FGFR3 FGFR2 FGFR1
3 positive regulation of protein kinase B signaling GO:0051897 9.69 FGFR3 FGFR2 FGFR1
4 protein autophosphorylation GO:0046777 9.67 FGFR3 FGFR2 FGFR1
5 peptidyl-tyrosine phosphorylation GO:0018108 9.61 FGFR3 FGFR2 FGFR1
6 bone development GO:0060348 9.6 TWIST1 FGFR2
7 bone mineralization GO:0030282 9.59 FGFR3 FGFR2
8 epithelial to mesenchymal transition GO:0001837 9.58 FGFR2 FGFR1
9 skeletal system morphogenesis GO:0048705 9.58 FGFR2 FGFR1
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.58 FGFR3 FGFR2 FGFR1
11 odontogenesis GO:0042476 9.56 TWIST1 FGFR2
12 bone morphogenesis GO:0060349 9.55 FGFR3 FGFR2
13 digestive tract development GO:0048565 9.54 NIPBL FGFR2
14 positive regulation of MAPK cascade GO:0043410 9.54 FGFR3 FGFR2 FGFR1
15 embryonic forelimb morphogenesis GO:0035115 9.52 TWIST1 NIPBL
16 embryonic digestive tract morphogenesis GO:0048557 9.48 NIPBL FGFR2
17 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR3 FGFR2 FGFR1
18 positive regulation of kinase activity GO:0033674 9.33 FGFR3 FGFR2 FGFR1
19 endochondral bone growth GO:0003416 9.32 FGFR3 FGFR2
20 embryonic cranial skeleton morphogenesis GO:0048701 9.13 TWIST1 NIPBL FGFR2
21 positive regulation of phospholipase activity GO:0010518 8.8 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.43 FGFR3 FGFR2 FGFR1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
3 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for 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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