MCID: CRN221
MIFTS: 22

Craniosynostosis 4

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

Aliases & Classifications for Craniosynostosis 4

MalaCards integrated aliases for Craniosynostosis 4:

Name: Craniosynostosis 4 57 75 73
Crs4 57 75
Familial Lambdoid Synostosis 59
Craniosynostosis, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
craniosynostosis 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Craniosynostosis 4

OMIM : 57 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, is also known as crs4. An important gene associated with Craniosynostosis 4 is ERF (ETS2 Repressor Factor). Affiliated tissues include brain, pituitary and bone, and related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Craniosynostosis 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
retrognathia
midface hypoplasia
prominent forehead (major feature)

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Nose:
short nose (in some patients)
vertical displacement of nose (in some patients)

Skeletal Skull:
sagittal synostosis (in some patients)
lambdoid synostosis (in some patients)
coronal synostosis (in some patients)
pansynostosis (in some patients)

Neurologic Central Nervous System:
learning difficulties
poor concentration
increased intracranial pressure preoperatively (in some patients)
chiari type i malformation (in some patients)
ectopic posterior pituitary (rare)
more
Head And Neck Eyes:
hypertelorism (major feature)
exorbitism (major feature)

Head And Neck Teeth:
dental malocclusion, class i (rare)

Skeletal Hands:
mild shortening of digits (in some patients)


Clinical features from OMIM:

600775

Human phenotypes related to Craniosynostosis 4:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
6 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
7 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
8 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
9 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0002714
10 round ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0100830
11 flat occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0005469
12 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
13 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
14 plagiocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001357
15 stomatocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004446
16 macrocephaly 32 occasional (7.5%) HP:0000256
17 malar flattening 32 HP:0000272
18 hypertelorism 32 HP:0000316
19 frontal bossing 32 HP:0002007
20 short nose 32 occasional (7.5%) HP:0003196
21 retrognathia 32 HP:0000278
22 optic nerve hypoplasia 32 occasional (7.5%) HP:0000609
23 midface retrusion 32 HP:0011800
24 anterior plagiocephaly 32 occasional (7.5%) HP:0011326
25 chin dimple 59 Occasional (29-5%)
26 lambdoidal craniosynostosis 32 HP:0004443
27 ectopic posterior pituitary 32 occasional (7.5%) HP:0011755
28 posterior plagiocephaly 32 HP:0011327
29 dimple chin 32 occasional (7.5%) HP:0010751
30 pansynostosis 32 occasional (7.5%) HP:0011325

Drugs & Therapeutics for Craniosynostosis 4

Search Clinical Trials , NIH Clinical Center for Craniosynostosis 4

Genetic Tests for Craniosynostosis 4

Anatomical Context for Craniosynostosis 4

MalaCards organs/tissues related to Craniosynostosis 4:

41
Brain, Pituitary, Bone

Publications for Craniosynostosis 4

Variations for Craniosynostosis 4

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

75
# 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
(show all 17)
# 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.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh38 Chromosome 19, 42249565: 42249565
3 ERF NM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs) deletion Pathogenic rs587777007 GRCh37 Chromosome 19, 42753372: 42753373
4 ERF NM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs) deletion Pathogenic rs587777007 GRCh38 Chromosome 19, 42249220: 42249221
5 ERF NM_006494.3(ERF): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs587777008 GRCh37 Chromosome 19, 42754484: 42754484
6 ERF NM_006494.3(ERF): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs587777008 GRCh38 Chromosome 19, 42250332: 42250332
7 ERF NM_006494.3(ERF): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777009 GRCh37 Chromosome 19, 42754546: 42754546
8 ERF NM_006494.3(ERF): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777009 GRCh38 Chromosome 19, 42250394: 42250394
9 ERF NM_006494.3(ERF): c.1270C> T (p.Gln424Ter) single nucleotide variant Pathogenic rs587777010 GRCh37 Chromosome 19, 42752994: 42752994
10 ERF NM_006494.3(ERF): c.1270C> T (p.Gln424Ter) single nucleotide variant Pathogenic rs587777010 GRCh38 Chromosome 19, 42248842: 42248842
11 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh37 Chromosome 14, 23889113: 23889113
12 MYH7 NM_000257.3(MYH7): c.3667G> A (p.Glu1223Lys) single nucleotide variant Uncertain significance rs794727410 GRCh38 Chromosome 14, 23419904: 23419904
13 ERF NM_006494.3(ERF): c.23_257del235 single nucleotide variant Pathogenic rs864321680 GRCh37 Chromosome 19, 42754719: 42754719
14 ERF NM_006494.3(ERF): c.23_257del235 single nucleotide variant Pathogenic rs864321680 GRCh38 Chromosome 19, 42250567: 42250567
15 ERF NM_006494.3(ERF): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs864321681 GRCh37 Chromosome 19, 42759151: 42759151
16 ERF NM_006494.3(ERF): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs864321681 GRCh38 Chromosome 19, 42254999: 42254999
17 46;XY;t(6;11)(q23;q21)or(q25;q21)dn Translocation Uncertain significance

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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74 UMLS via Orphanet
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