MCID: CRN221
MIFTS: 24

Craniosynostosis 4

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Craniosynostosis 4

Summaries for Craniosynostosis 4

OMIM : 53 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). (600775)

MalaCards based summary : Craniosynostosis 4, also known as crs4, is related to lambdoid synostosis, and has symptoms including hydrocephalus, intellectual disability and muscular hypotonia. An important gene associated with Craniosynostosis 4 is ERF (ETS2 Repressor Factor). Affiliated tissues include brain, pituitary and bone.

UniProtKB/Swiss-Prot : 71 Craniosynostosis 4: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.

Related Diseases for Craniosynostosis 4

Diseases in the Craniosynostosis family:

Craniosynostosis 1 Craniosynostosis 4
Craniosynostosis 2 Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis 3 Craniosynostosis 5
Craniosynostosis 6 Craniosynostosis 7
Craniosynostosis Autosomal Dominant

Diseases related to Craniosynostosis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lambdoid synostosis 10.0

Symptoms & Phenotypes for Craniosynostosis 4

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckFace:
retrognathia
midface hypoplasia
prominent forehead (major feature)

HeadAndNeckHead:
macrocephaly (in some patients)

HeadAndNeckNose:
short nose (in some patients)
vertical displacement of nose (in some patients)

SkeletalSkull:
sagittal synostosis (in some patients)
lambdoid synostosis (in some patients)
coronal synostosis (in some patients)
pansynostosis (in some patients)

NeurologicCentralNervousSystem:
learning difficulties
poor concentration
increased intracranial pressure preoperatively (in some patients)
chiari type i malformation (in some patients)
ectopic posterior pituitary (rare)
more
HeadAndNeckEyes:
hypertelorism (major feature)
exorbitism (major feature)

HeadAndNeckTeeth:
dental malocclusion, class i (rare)

SkeletalHands:
mild shortening of digits (in some patients)


Clinical features from OMIM:

600775

Human phenotypes related to Craniosynostosis 4:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
2 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
3 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
4 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
5 prominent forehead 55 31 frequent (33%) Frequent (79-30%) HP:0011220
6 external ear malformation 55 31 frequent (33%) Frequent (79-30%) HP:0008572
7 protruding ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0000411
8 telecanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000506
9 downturned corners of mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0002714
10 round ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0100830
11 flat occiput 55 31 hallmark (90%) Very frequent (99-80%) HP:0005469
12 blepharophimosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000581
13 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
14 plagiocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001357
15 stomatocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004446
16 macrocephaly 31 occasional (7.5%) HP:0000256
17 malar flattening 31 HP:0000272
18 hypertelorism 31 HP:0000316
19 frontal bossing 31 HP:0002007
20 short nose 31 occasional (7.5%) HP:0003196
21 retrognathia 31 HP:0000278
22 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609
23 midface retrusion 31 HP:0011800
24 anterior plagiocephaly 31 occasional (7.5%) HP:0011326
25 chin dimple 55 Occasional (29-5%)
26 lambdoidal craniosynostosis 31 HP:0004443
27 ectopic posterior pituitary 31 occasional (7.5%) HP:0011755
28 posterior plagiocephaly 31 HP:0011327
29 dimple chin 31 occasional (7.5%) HP:0010751
30 pansynostosis 31 occasional (7.5%) HP:0011325

Drugs & Therapeutics for Craniosynostosis 4

Search Clinical Trials , NIH Clinical Center for Craniosynostosis 4

Genetic Tests for Craniosynostosis 4

Genetic tests related to Craniosynostosis 4:

# Genetic test Affiliating Genes
1 Craniosynostosis 4 28 ERF

Anatomical Context for Craniosynostosis 4

MalaCards organs/tissues related to Craniosynostosis 4:

38
Brain, Pituitary, Bone

Publications for Craniosynostosis 4

Variations for Craniosynostosis 4

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 4:

71
# Symbol AA change Variation ID SNP ID
1 ERF p.Arg65Gln VAR_070098 rs587777009
2 ERF p.Arg86Cys VAR_070099 rs587777008

ClinVar genetic disease variations for Craniosynostosis 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh37 Chromosome 19, 42753717: 42753717
2 ERF NM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs) deletion Pathogenic rs587777007 GRCh37 Chromosome 19, 42753372: 42753373
3 ERF NM_006494.3(ERF): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs587777008 GRCh37 Chromosome 19, 42754484: 42754484
4 ERF NM_006494.3(ERF): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777009 GRCh37 Chromosome 19, 42754546: 42754546
5 ERF NM_006494.3(ERF): c.1270C> T (p.Gln424Ter) single nucleotide variant Pathogenic rs587777010 GRCh37 Chromosome 19, 42752994: 42752994
6 ERF NM_006494.3(ERF): c.23_257del235 single nucleotide variant Pathogenic rs864321680 GRCh37 Chromosome 19, 42754719: 42754719
7 ERF NM_006494.3(ERF): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs864321681 GRCh37 Chromosome 19, 42759151: 42759151

Expression for Craniosynostosis 4

Search GEO for disease gene expression data for Craniosynostosis 4.

Pathways for Craniosynostosis 4

GO Terms for Craniosynostosis 4

Sources for Craniosynostosis 4

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