MCID: ISL062
MIFTS: 20

Isolated Plagiocephaly malady

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

Aliases & Classifications for Isolated Plagiocephaly

About this section
Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Isolated Plagiocephaly:

Name: Isolated Plagiocephaly 51
Non-Syndromic Unicoronal Synostosis 51
 
Synostotic Plagiocephaly 51
Craniosynostosis 65

Characteristics:

Orphanet epidemiological data:

51
non-syndromic unicoronal synostosis:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 35098
ICD10 via Orphanet28 Q67.3

Summaries for Isolated Plagiocephaly

About this section
MalaCards based summary: Isolated Plagiocephaly, also known as non-syndromic unicoronal synostosis, is related to lung cancer and ellis-van creveld syndrome, and has symptoms including facial asymmetry, plagiocephaly and frontal bossing. An important gene associated with Isolated Plagiocephaly is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include eye and bone.

Related Diseases for Isolated Plagiocephaly

About this section

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1lung cancer10.3
2ellis-van creveld syndrome10.3
3cerebral palsy10.3
4spastic cerebral palsy10.3
5generalized anxiety disorder10.3
6anxiety disorder10.3
7neonatal jaundice10.3
8cerebritis10.3
9blood group incompatibility10.3
10spasticity10.3
11critical limb ischemia9.8FGFR3, TCF12
12craniosynostosis, type 19.8FGFR3, TCF12
13botulism9.6FGFR3, TCF12
14familial cervical artery dissection9.3FGFR3, TCF12, ZIC1
15distal monosomy 1q9.3FGFR3, TCF12, ZIC1

Graphical network of diseases related to Isolated Plagiocephaly:



Diseases related to isolated plagiocephaly

Symptoms for Isolated Plagiocephaly

About this section

Symptoms:

 51 (show all 11)
  • plagiocephaly
  • frontal bossing/prominent forehead
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • mid-facial hypoplasia/short/small midface
  • hearing loss/hypoacusia/deafness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance

HPO human phenotypes related to Isolated Plagiocephaly:

(show all 9)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 plagiocephaly hallmark (90%) HP:0001357
3 frontal bossing hallmark (90%) HP:0002007
4 strabismus typical (50%) HP:0000486
5 visual field defect typical (50%) HP:0001123
6 macrocephaly occasional (7.5%) HP:0000256
7 malar flattening occasional (7.5%) HP:0000272
8 hearing impairment occasional (7.5%) HP:0000365
9 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Isolated Plagiocephaly

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Isolated Plagiocephaly

Genetic Tests for Isolated Plagiocephaly

About this section

Anatomical Context for Isolated Plagiocephaly

About this section

MalaCards organs/tissues related to Isolated Plagiocephaly:

33
Eye, Bone

Animal Models for Isolated Plagiocephaly or affiliated genes

About this section

Publications for Isolated Plagiocephaly

About this section

Variations for Isolated Plagiocephaly

About this section

Expression for genes affiliated with Isolated Plagiocephaly

About this section
Search GEO for disease gene expression data for Isolated Plagiocephaly.

Pathways for genes affiliated with Isolated Plagiocephaly

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.0FGFR3, ZIC1

GO Terms for genes affiliated with Isolated Plagiocephaly

About this section

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.1TCF12, ZIC1

Sources for Isolated Plagiocephaly

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet