MCID: CRN221
MIFTS: 31

Craniosynostosis 4

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

Aliases & Classifications for Craniosynostosis 4

Summaries for Craniosynostosis 4

OMIM : 54
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 familial lambdoid synostosis, is related to erf-related craniosynostosis and lambdoid synostosis, and has symptoms including hypertonia, hydrocephalus and prominent forehead. An important gene associated with Craniosynostosis 4 is ERF (ETS2 Repressor Factor). The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and pituitary.

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

Symptoms & Phenotypes for Craniosynostosis 4

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
midface hypoplasia
retrognathia
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:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
2 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 prominent forehead 56 32 frequent (33%) Frequent (79-30%) HP:0011220
4 telecanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000506
5 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
6 plagiocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001357
7 blepharophimosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000581
8 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
9 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
10 stomatocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004446
11 downturned corners of mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0002714
12 flat occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0005469
13 external ear malformation 56 32 frequent (33%) Frequent (79-30%) HP:0008572
14 protruding ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000411
15 round ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0100830
16 hypertelorism 32 HP:0000316
17 retrognathia 32 HP:0000278
18 frontal bossing 32 HP:0002007
19 short nose 32 occasional (7.5%) HP:0003196
20 macrocephaly 32 occasional (7.5%) HP:0000256
21 midface retrusion 32 HP:0011800
22 optic nerve hypoplasia 32 occasional (7.5%) HP:0000609
23 ectopic posterior pituitary 32 occasional (7.5%) HP:0011755
24 malar flattening 32 HP:0000272
25 chin dimple 56 Occasional (29-5%)
26 lambdoidal craniosynostosis 32 HP:0004443
27 dimple chin 32 occasional (7.5%) HP:0010751
28 pansynostosis 32 occasional (7.5%) HP:0011325
29 posterior plagiocephaly 32 HP:0011327

Drugs & Therapeutics for Craniosynostosis 4

Drugs for Craniosynostosis 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4
3 Coagulants Phase 4
4 Hemostatics Phase 4
5
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
6
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
9
Etoposide Approved Phase 3 33419-42-0 36462
10
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
11
Lenograstim Approved Phase 3 135968-09-1
12
Mechlorethamine Approved Phase 3 51-75-2 4033
13
Melphalan Approved Phase 3 148-82-3 4053 460612
14
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
15
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
16
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
17
Doxil Approved June 1999 Phase 3 31703
18 Adjuvants, Immunologic Phase 3
19 Alkylating Agents Phase 3
20 Anti-Bacterial Agents Phase 3
21 Antibiotics, Antitubercular Phase 3
22 Antimitotic Agents Phase 3
23 Antineoplastic Agents, Phytogenic Phase 3
24 Antirheumatic Agents Phase 3
25 Dermatologic Agents Phase 3
26 Etoposide phosphate Phase 3
27 Immunosuppressive Agents Phase 3
28 topoisomerase I inhibitors Phase 3
29 Topoisomerase Inhibitors Phase 3
30 phenylalanine Nutraceutical Phase 3
31
Iron Approved 7439-89-6 23925
32 Calcium, Dietary
33 Epoetin alfa 113427-24-0
34 Ferrous fumarate
35 Hematinics
36 Micronutrients
37 Trace Elements

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
3 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
4 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
5 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
6 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
7 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
8 Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child Not yet recruiting NCT03231085 Ferrous fumarate

Search NIH Clinical Center for Craniosynostosis 4

Genetic Tests for Craniosynostosis 4

Genetic tests related to Craniosynostosis 4:

id Genetic test Affiliating Genes
1 Craniosynostosis 4 29

Anatomical Context for Craniosynostosis 4

MalaCards organs/tissues related to Craniosynostosis 4:

39
Brain, Bone, Pituitary

Publications for Craniosynostosis 4

Variations for Craniosynostosis 4

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

71
id 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
id 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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70 UMLS via Orphanet
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