MCID: PLG004
MIFTS: 43

Plagiocephaly malady

Categories: Rare diseases

Aliases & Classifications for Plagiocephaly

Summaries for Plagiocephaly

MalaCards based summary : Plagiocephaly is related to muenke syndrome and isolated plagiocephaly. An important gene associated with Plagiocephaly is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. The drug Salicylic acid has been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and behavior/neurological

Wikipedia : 71 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 54)
id Related Disease Score Top Affiliating Genes
1 muenke syndrome 31.4 FGFR2 FGFR3
2 isolated plagiocephaly 12.0
3 plagiocephaly and x-linked mental retardation 11.8
4 lambdoid synostosis 11.2
5 mental retardation, x-linked, with craniofacial dysmorphism 10.9
6 brachycephaly, deafness, cataract, microstomia, and mental retardation 10.8
7 hyde forster mccarthy berry syndrome 10.8
8 synostosis 10.4
9 craniosynostosis 10.2
10 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.1 FGFR2 FGFR3
11 cervical spinal canal and spinal cord meningioma 10.1 FGFR2 FGFR3
12 aica-ribosiduria due to atic deficiency 10.1 FGFR2 FGFR3
13 lingual-facial-buccal dyskinesia 10.1 FGFR2 FGFR3
14 sp7-related osteogenesis imperfecta 10.1 FGFR2 FGFR3
15 leg dermatosis 10.1 FGFR2 FGFR3
16 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.1 FGFR1 FGFR2
17 pitx3-related anterior segment mesenchymal dysgenesis 10.1 FGFR1 FGFR2
18 acrofacial dysostosis, palagonia type 10.0 FGFR1 FGFR2
19 strabismus 10.0
20 t cell immunodeficiency primary 10.0 FGFR1 FGFR3
21 epidemic typhus 10.0 FGFR1 FGFR2
22 autosomal genetic disease 10.0 FGFR2 FGFR3
23 ovarian epithelial cancer 10.0 FGFR1 FGFR3
24 hypoparathyroidism 10.0 FGFR2 FGFR3
25 early myoclonic encephalopathy 10.0 FGFR1 FGFR3
26 cervicitis 9.9
27 familial porphyria cutanea tarda 9.9 FGFR1 FGFR2 FGFR3
28 hartsfield syndrome 9.9 FGFR1 FGFR2 FGFR3
29 osteoglophonic dysplasia 9.9 FGFR1 FGFR2 FGFR3
30 crouzon syndrome with acanthosis nigricans 9.9 FGFR1 FGFR2 FGFR3
31 apert syndrome 9.9 FGFR1 FGFR2 FGFR3
32 thanatophoric dysplasia, type i 9.9 FGFR1 FGFR2 FGFR3
33 saddan 9.9 FGFR1 FGFR2 FGFR3
34 juvenile astrocytoma 9.9 FGFR1 FGFR3 TWIST1
35 pancreatic cystadenoma 9.8 FGFR1 FGFR2
36 scaphocephaly, maxillary retrusion, and mental retardation 9.7 FGFR1 FGFR2 FGFR3 TWIST1
37 cervical cancer, somatic 9.7 FGFR1 FGFR2 FGFR3 TWIST1
38 robinow-sorauf syndrome 9.7 FGFR1 FGFR2 FGFR3 TWIST1
39 bone structure disease 9.7 FGFR1 FGFR2 FGFR3 TWIST1
40 hypogonadotropic hypogonadism 2 with or without anosmia 9.7 FGFR1 FGFR2 FGFR3 TWIST1
41 sudden infant death syndrome 9.7
42 crouzon syndrome 9.7
43 otitis media 9.7
44 hemifacial microsomia 9.7
45 hemangioma 9.7
46 scoliosis 9.7
47 astigmatism 9.7
48 dysostosis 9.7
49 refractive error 9.7
50 idiopathic recurrent and disabling cutaneous herpes 9.6 FGFR3 TCF12 TWIST1 ZIC1

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
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 FGFR1 FGFR2 FGFR3 TCF12 TWIST1 ZIC1
2 growth/size/body region MP:0005378 9.85 TCF12 TWIST1 ZIC1 FGFR1 FGFR2 FGFR3
3 craniofacial MP:0005382 9.73 FGFR1 FGFR2 FGFR3 TWIST1
4 mortality/aging MP:0010768 9.73 FGFR1 FGFR2 FGFR3 TCF12 TWIST1 ZIC1
5 digestive/alimentary MP:0005381 9.71 FGFR1 FGFR2 FGFR3 TWIST1
6 limbs/digits/tail MP:0005371 9.62 FGFR1 FGFR2 FGFR3 TWIST1
7 muscle MP:0005369 9.46 ZIC1 FGFR1 FGFR2 TWIST1
8 nervous system MP:0003631 9.43 FGFR1 FGFR2 FGFR3 TCF12 TWIST1 ZIC1
9 skeleton MP:0005390 9.02 FGFR1 FGFR2 FGFR3 TWIST1 ZIC1

Drugs & Therapeutics for Plagiocephaly

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salicylic acid Approved, Vet_approved 69-72-7 338

Interventional clinical trials:


id Name Status NCT ID Phase
1 Postural Assessment in Plagiocephaly Completed NCT01989286
2 Investigating the Effectiveness of Mobilization on Congenital Muscular Torticollis and Deformational Plagiocephaly Recruiting NCT02403011
3 Newborn Head Molding and Later Asymmetries Active, not recruiting NCT02283229
4 Brain Characteristics Noted Prior to and Following Treatment Active, not recruiting NCT02392195
5 Osteopathic Approach Into Neonatology Ward: the NE-O Model Available NCT01902563
6 Investigating the Effectiveness of Control Frequency on and Deformational Plagiocephaly Not yet recruiting NCT02607969
7 Cranial Orthotic Device Versus Repositioning Techniques for the Management of Plagiocephaly: the CRANIO Randomized Trial Not yet recruiting NCT02370901
8 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087
9 Hanger Helmet Study Withdrawn NCT02561728

Search NIH Clinical Center for Plagiocephaly

Genetic Tests for Plagiocephaly

Genetic tests related to Plagiocephaly:

id Genetic test Affiliating Genes
1 Plagiocephaly 29

Anatomical Context for Plagiocephaly

MalaCards organs/tissues related to Plagiocephaly:

39
Brain, Bone, Testes, Heart, Eye

Publications for Plagiocephaly

Articles related to Plagiocephaly:

(show top 50) (show all 360)
id Title Authors Year
1
The health belief model and factors associated with adherence to treatment recommendations for positional plagiocephaly. ( 28084919 )
2017
2
Plagiocephaly and Developmental Delay: A Systematic Review. ( 28009719 )
2017
3
Factors influencing outcomes of the treatment of positional plagiocephaly in infants: a 7-year experience. ( 28084921 )
2017
4
Therapy effects of head orthoses in positional plagiocephaly. ( 27595189 )
2016
5
Assessing the Cervical Range of Motion in Infants With Positional Plagiocephaly. ( 27192654 )
2016
6
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for the Management of Patients With Positional Plagiocephaly: Executive Summary. ( 27759671 )
2016
7
Guidelines: Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Role of Cranial Molding Orthosis (Helmet) Therapy for Patients With Positional Plagiocephaly. ( 27759675 )
2016
8
Assessment of Deformational Plagiocephaly Severity and Neonatal Developmental Delay. ( 27557465 )
2016
9
An Evidence-Based Approach to Nonsynostotic Plagiocephaly. ( 27673539 )
2016
10
Plagiocephaly and Developmental Delay: The Expanding Role of the Craniofacial Surgeon. ( 27428923 )
2016
11
Use of external orthotic helmet therapy in positional plagiocephaly. ( 26947339 )
2016
12
Neurological assessment of Chinese infants with positional plagiocephaly using a Chinese version of the Infant Neurological International Battery (INFANIB). ( 27718070 )
2016
13
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Role of Cranial Molding Orthosis (Helmet) Therapy for Patients With Positional Plagiocephaly. ( 27776089 )
2016
14
Evidence for Use of Frontozygomaticus and Contralateral Eurion as Hand-Caliper Landmarks for Assessment of Deformational Plagiocephaly. ( 27428906 )
2016
15
Long-Term Assessment of Suturectomy in Trigonocephaly and Anterior Plagiocephaly. ( 27092924 )
2016
16
Effect of fronto-orbital advancement on astigmatism in patients with anterior plagiocephaly. ( 27567360 )
2016
17
Guidelines: Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline for the Management of Patients With Positional Plagiocephaly: The Role of Physical Therapy. ( 27759674 )
2016
18
Sonographic Analysis of Changes in Skull Shape After Cranial Molding Helmet Therapy in Infants With Deformational Plagiocephaly. ( 26928929 )
2016
19
Effects of manual therapy on treatment duration and motor development in infants with severe nonsynostotic plagiocephaly: a randomised controlled pilot study. ( 27465676 )
2016
20
Diagnostic Yield of Routine Skull Radiographs in Infants With Deformational Plagiocephaly. ( 27136073 )
2016
21
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline for the Management of Patients With Positional Plagiocephaly: The Role of Physical Therapy. ( 27776088 )
2016
22
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline for the Diagnosis of Patients With Positional Plagiocephaly: The Role of Imaging. ( 27776086 )
2016
23
Quantitative analysis of craniofacial dysmorphology in infants with anterior synostotic plagiocephaly. ( 27541866 )
2016
24
Impact of severity and therapy onset on helmet therapy in positional plagiocephaly. ( 26724211 )
2016
25
Plagiocephaly due to Frontosphenoidal Suture Synostosis: Report of 2 Cases and Literature Review. ( 26960206 )
2016
26
Positional plagiocephaly reduces parental adherence to SIDS Guidelines and inundates the health system. ( 27504717 )
2016
27
Assessment of Deformational Plagiocephaly Severity and Neonatal Developmental Delay. ( 28005729 )
2016
28
Repercussions of plagiocephaly on posture, muscle flexibility and balance in children aged 3-5a88years old. ( 27329908 )
2016
29
Guidelines: Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Management of Patients With Positional Plagiocephaly: The Role of Repositioning. ( 27759673 )
2016
30
Malocclusion in the primary dentition in children with and without deformational plagiocephaly. ( 26795625 )
2016
31
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Management of Patients With Positional Plagiocephaly: The Role of Repositioning. ( 27776087 )
2016
32
Guidelines: Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline for the Diagnosis of Patients With Positional Plagiocephaly: The Role of Imaging. ( 27759672 )
2016
33
Positional plagiocephaly following ventriculoperitoneal shunting in neonates and infancy-how serious is it? ( 27848003 )
2016
34
Systematic Review and Evidence-Based Guidelines for the Management of Patients with Positional Plagiocephaly. ( 27940801 )
2016
35
Clinical assessment of head orientation profile development and its relationship with positional plagiocephaly in healthy term infants - A prospective study. ( 27031440 )
2016
36
Frontal cranial modeling using endocranial resorbable plate fixation in 27 consecutive plagiocephaly and trigonocephaly patients. ( 25715840 )
2015
37
Prevalence and Consequences of Positional Plagiocephaly and Brachycephaly. ( 26595002 )
2015
38
Prevention of deformational plagiocephaly in hospitalized infants using a new orthotic device. ( 25573141 )
2015
39
Three-dimensional analysis of cranial and facial asymmetry after helmet therapy for positional plagiocephaly. ( 25771922 )
2015
40
Orthotic Management of Deformational Plagiocephaly: Consensus Clinical Standards of Care. ( 26247705 )
2015
41
The usage of the three-dimension distractor in the NAVID system for plagiocephaly-three case reports. ( 26188775 )
2015
42
Diagnostic Yield of Cervical Radiographs in Infants with Deformational Plagiocephaly. ( 26218395 )
2015
43
Preventing deformational plagiocephaly through parent guidance: a randomized, controlled trial. ( 25823758 )
2015
44
Efficacy of Conservative and Cranial Orthotic Therapy in Over 4000 Patients Treated for Positional Plagiocephaly Over a Five-Year Period. ( 26397486 )
2015
45
Methods to Diagnose, Classify, and Monitor Infantile Deformational Plagiocephaly and Brachycephaly: A Narrative Review. ( 26778933 )
2015
46
Lambdoid Synostosis Versus Positional Posterior Plagiocephaly, a Comparison of Skull Base and Shape of Calvarium Using Computed Tomography Imaging. ( 26335322 )
2015
47
Comparison of Direct and Digital Measures of Cranial Vault Asymmetry for Assessment of Plagiocephaly. ( 26267578 )
2015
48
Uvular Malformation in the Presence of Deformational Plagiocephaly. ( 25901668 )
2015
49
The danger of posterior plagiocephaly. ( 25987949 )
2015
50
Argenta Clinical Classification of Deformational Plagiocephaly. ( 25901672 )
2015

Variations for Plagiocephaly

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 29)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 FGFR1 FGFR2 FGFR3 TWIST1
2
Show member pathways
12.96 FGFR1 FGFR2 FGFR3 TCF12
3
Show member pathways
12.45 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.44 FGFR1 FGFR2 FGFR3
5 12.43 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.41 FGFR1 FGFR2 FGFR3
7 12.38 FGFR1 FGFR2 FGFR3
8 12.33 FGFR1 FGFR2 FGFR3
9 12.29 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.19 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
16
Show member pathways
11.94 FGFR1 FGFR2 FGFR3
17
Show member pathways
11.89 FGFR1 FGFR2 FGFR3
18
Show member pathways
11.82 FGFR1 FGFR2 FGFR3
19
Show member pathways
11.78 FGFR1 FGFR2 FGFR3
20 11.7 FGFR1 FGFR2 FGFR3
21 11.64 FGFR1 FGFR2 FGFR3
22 11.55 FGFR1 FGFR3
23 11.43 FGFR1 FGFR3
24 11.42 FGFR1 FGFR2 FGFR3
25 11.37 FGFR1 FGFR2 FGFR3
26 11.25 FGFR1 FGFR2
27 11.14 FGFR1 FGFR2 FGFR3
28 11.03 FGFR1 FGFR2 FGFR3 TWIST1 ZIC1
29 10.79 FGFR1 FGFR2 FGFR3

GO Terms for Plagiocephaly

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

(show all 38)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.96 FGFR2 TCF12 TWIST1 ZIC1
2 positive regulation of cell proliferation GO:0008284 9.85 FGFR1 FGFR2 FGFR3
3 MAPK cascade GO:0000165 9.79 FGFR1 FGFR2 FGFR3
4 in utero embryonic development GO:0001701 9.76 FGFR1 FGFR2 TWIST1
5 protein autophosphorylation GO:0046777 9.75 FGFR1 FGFR2 FGFR3
6 peptidyl-tyrosine phosphorylation GO:0018108 9.74 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol-mediated signaling GO:0048015 9.69 FGFR1 FGFR2 FGFR3
8 positive regulation of neuron differentiation GO:0045666 9.68 FGFR1 TCF12
9 positive regulation of epithelial cell proliferation GO:0050679 9.67 FGFR2 TWIST1
10 embryonic limb morphogenesis GO:0030326 9.67 FGFR1 TWIST1
11 phosphatidylinositol phosphorylation GO:0046854 9.67 FGFR1 FGFR2 FGFR3
12 bone development GO:0060348 9.66 FGFR2 TWIST1
13 ureteric bud development GO:0001657 9.66 FGFR1 FGFR2
14 skeletal system morphogenesis GO:0048705 9.65 FGFR1 FGFR2
15 chondrocyte differentiation GO:0002062 9.65 FGFR1 FGFR3
16 positive regulation of cell cycle GO:0045787 9.64 FGFR1 FGFR2
17 midbrain development GO:0030901 9.64 FGFR1 FGFR2
18 bone mineralization GO:0030282 9.63 FGFR2 FGFR3
19 embryonic cranial skeleton morphogenesis GO:0048701 9.63 FGFR2 TWIST1
20 positive regulation of MAPK cascade GO:0043410 9.63 FGFR1 FGFR2 FGFR3
21 odontogenesis GO:0042476 9.62 FGFR2 TWIST1
22 bone morphogenesis GO:0060349 9.61 FGFR2 FGFR3
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 FGFR1 FGFR2
24 fibroblast growth factor receptor signaling pathway GO:0008543 9.61 FGFR1 FGFR2 FGFR3
25 positive regulation of cardiac muscle cell proliferation GO:0060045 9.6 FGFR1 FGFR2
26 regulation of smoothened signaling pathway GO:0008589 9.59 FGFR2 ZIC1
27 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.58 FGFR1 FGFR2 FGFR3
28 branching involved in salivary gland morphogenesis GO:0060445 9.56 FGFR1 FGFR2
29 lung-associated mesenchyme development GO:0060484 9.55 FGFR1 FGFR2
30 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
31 inner ear morphogenesis GO:0042472 9.54 FGFR1 FGFR2 ZIC1
32 outer ear morphogenesis GO:0042473 9.52 FGFR1 TWIST1
33 endochondral bone growth GO:0003416 9.48 FGFR2 FGFR3
34 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.33 FGFR1 FGFR2 FGFR3
35 orbitofrontal cortex development GO:0021769 9.32 FGFR1 FGFR2
36 ventricular zone neuroblast division GO:0021847 9.26 FGFR1 FGFR2
37 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 8.96 FGFR1 FGFR2
38 positive regulation of phospholipase activity GO:0010518 8.8 FGFR1 FGFR2 FGFR3

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.76 FGFR1 FGFR2 TCF12 TWIST1
2 nucleotide binding GO:0000166 9.67 FGFR1 FGFR2 FGFR3
3 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
6 E-box binding GO:0070888 9.48 TCF12 TWIST1
7 bHLH transcription factor binding GO:0043425 9.43 TCF12 TWIST1
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Plagiocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....