MCID: ISL134
MIFTS: 14

Isolated Craniosynostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Craniosynostosis

MalaCards integrated aliases for Isolated Craniosynostosis:

Name: Isolated Craniosynostosis 58

Characteristics:

Orphanet epidemiological data:

58
isolated craniosynostosis
Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 72 C0010278
Orphanet 58 ORPHA139390

Summaries for Isolated Craniosynostosis

MalaCards based summary : Isolated Craniosynostosis is related to craniosynostosis and craniosynostosis 5. An important gene associated with Isolated Craniosynostosis is FGFR3 (Fibroblast Growth Factor Receptor 3).

Related Diseases for Isolated Craniosynostosis

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 11.3
2 craniosynostosis 5 11.0
3 synostosis 10.1
4 crouzon syndrome 10.0
5 muenke syndrome 10.0
6 polyhydramnios 10.0
7 plagiocephaly 10.0
8 acanthosis nigricans 9.8
9 achondroplasia 9.8
10 cleft palate, isolated 9.8
11 hypertelorism 9.8
12 hypochondroplasia 9.8
13 thanatophoric dysplasia, type i 9.8
14 acrocraniofacial dysostosis 9.8
15 crouzon syndrome with acanthosis nigricans 9.8
16 hydrocephalus 9.8
17 dysostosis 9.8
18 skeletal dysplasias 9.8
19 ciliopathy 9.8
20 isolated oxycephaly 9.8

Graphical network of the top 20 diseases related to Isolated Craniosynostosis:



Diseases related to Isolated Craniosynostosis

Symptoms & Phenotypes for Isolated Craniosynostosis

Drugs & Therapeutics for Isolated Craniosynostosis

Search Clinical Trials , NIH Clinical Center for Isolated Craniosynostosis

Genetic Tests for Isolated Craniosynostosis

Anatomical Context for Isolated Craniosynostosis

Publications for Isolated Craniosynostosis

Articles related to Isolated Craniosynostosis:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Risk factors and time trends for isolated craniosynostosis. 61
33091229 2021
2
New diagnostic approach of the different types of isolated craniosynostosis. 61
33151409 2020
3
Assessment of the Outcome of Calvarial Vault Remodeling and Spring-Mediated Cranioplasty in the Correction of Isolated Sagittal Suture Synostosis. 61
32890161 2020
4
What Is the Difference in Cranial Base Morphology in Isolated and Syndromic Bicoronal Synostosis? 61
32842109 2020
5
Sagittal suture maturation: Morphological reorganization, relation to aging, and reliability as an age-at-death indicator. 61
30848843 2019
6
Trigonocephaly: Long-term results after surgical correction of metopic suture synostosis. 61
30712337 2019
7
The Brain Shadowing Sign: A Clue Finding for Early Suspicion of Craniosynostosis? 61
30138932 2019
8
Variation in the management of isolated craniosynostosis: a survey of the Synostosis Research Group. 61
30215587 2018
9
Multicentre approach to epidemiological aspects of craniosynostosis in Germany. 61
30360905 2018
10
Subjective Assessment of Head and Facial Appearance in Children with Craniosynostoses after Surgical Treatment. 61
30355964 2018
11
Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis. 61
29688857 2018
12
Multidisciplinary care of craniosynostosis. 61
28740400 2017
13
Surgical Correction of Nonsyndromic Sagittal Craniosynostosis: Concepts and Controversies. 61
26808733 2017
14
Comparison Between Two Different Isolated Craniosynostosis Techniques: Does It Affect Cranial Bone Growth? 61
27315320 2016
15
A case of unilateral coronal synostosis from Medieval Hungary (9th century A.D.). 61
26555924 2016
16
The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis. 61
27049321 2016
17
A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a. 61
24887031 2014
18
Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome. 61
25071892 2014
19
Maternal periconceptional occupational exposure to pesticides and selected musculoskeletal birth defects. 61
23871272 2014
20
Isolated primary craniosynostosis in an adult: Imaging findings of a case. 61
24753669 2014
21
Chiari malformation in nonsyndromal single craniosynostosis--much ado about nothing? 61
22790904 2012
22
Avoiding CT scans in children with single-suture craniosynostosis. 61
22349960 2012
23
On Bernard Sarnat's 100th birthday: pathology and management of craniosynostosis. 61
22337384 2012
24
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. 61
22038757 2011
25
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis. 61
21910230 2011
26
Craniosynostosis genetics: The mystery unfolds. 61
22090712 2011
27
IGF1R variants associated with isolated single suture craniosynostosis. 61
21204214 2011
28
An epidemiological study of nonsyndromal craniosynostoses. 61
21187784 2011
29
Papilledema in isolated single-suture craniosynostosis: prevalence and predictive factors. 61
20072027 2010
30
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases. 61
19112545 2008
31
A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. 61
18344207 2008
32
Nonsyndromic craniosynostosis: current treatment options. 61
18562899 2008
33
Neurodevelopment of infants with single-suture craniosynostosis: presurgery comparisons with case-matched controls. 61
17440368 2007
34
Phenotypic integration of neurocranium and brain. 61
16526048 2006
35
Predicting neuropsychological development from skull imaging. 61
17945777 2006
36
Brain morphology in nonsyndromic unicoronal craniosynostosis. 61
15977220 2005
37
Cognitive impact of craniosynostosis. 61
15828715 2004
38
Single-suture craniosynostosis: a review of neurobehavioral research and theory. 61
15491988 2004
39
Pediatric cranio-facial surgery. First-year's experience with a gun applying bioabsorbable tacks. 61
15278023 2004
40
[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses]. 61
14577033 2003
41
Deciding on surgery: supporting parents of infants with craniosynostosis. 61
12739353 2003
42
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis. 61
12362036 2002
43
Central nervous system phenotypes in craniosynostosis. 61
12171474 2002
44
Isolated craniosynostosis: prenatal ultrasound of scaphocephaly with polyhydramnios. 61
11858399 2001
45
Maternal smoking and craniosynostosis. 61
10471899 1999
46
Retrospective study of nonsyndromic craniosynostosis treated over a 10-year period. 61
10388415 1999
47
Controversies in the diagnosis and management of craniosynostosis: a panel discussion. 61
9603550 1998
48
[Cranial development after corrective skull surgery in craniosynostosis]. 61
9658820 1998
49
[Cranial development and growth following treatment of craniosynostosis skull deformities]. 61
23526014 1998
50
Hydrocephalus and craniosynostosis. 61
9452225 1998

Variations for Isolated Craniosynostosis

Expression for Isolated Craniosynostosis

Search GEO for disease gene expression data for Isolated Craniosynostosis.

Pathways for Isolated Craniosynostosis

GO Terms for Isolated Craniosynostosis

Sources for Isolated Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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