MCID: ISL134
MIFTS: 16

Isolated Craniosynostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Craniosynostosis

MalaCards integrated aliases for Isolated Craniosynostosis:

Name: Isolated Craniosynostosis 59

Characteristics:

Orphanet epidemiological data:

59
isolated craniosynostosis
Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q75.0
UMLS via Orphanet 73 C0010278
Orphanet 59 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). Affiliated tissues include bone and brain.

Related Diseases for Isolated Craniosynostosis

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 11.8
2 craniosynostosis 5 11.2
3 crouzon syndrome 10.0
4 c syndrome 10.0
5 synostosis 10.0
6 muenke syndrome 9.9
7 polyhydramnios 9.9
8 acanthosis nigricans 9.8
9 achondroplasia 9.8
10 apert syndrome 9.8
11 cleft palate, isolated 9.8
12 hypertelorism 9.8
13 hypochondroplasia 9.8
14 thanatophoric dysplasia, type i 9.8
15 acrocraniofacial dysostosis 9.8
16 crouzon syndrome with acanthosis nigricans 9.8
17 hydrocephalus 9.8
18 dysostosis 9.8
19 congenital hydrocephalus 9.8
20 kaplan plauchu fitch syndrome 9.8
21 plagiocephaly 9.8
22 skeletal dysplasias 9.8
23 syndromic craniosynostosis 9.8
24 ciliopathy 9.8
25 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

MalaCards organs/tissues related to Isolated Craniosynostosis:

41
Bone, Brain

Publications for Isolated Craniosynostosis

Articles related to Isolated Craniosynostosis:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Trigonocephaly: Long-term results after surgical correction of metopic suture synostosis. 38
30712337 2019
2
Sagittal suture maturation: Morphological reorganization, relation to aging, and reliability as an age-at-death indicator. 38
30848843 2019
3
The Brain Shadowing Sign: A Clue Finding for Early Suspicion of Craniosynostosis? 38
30138932 2019
4
Variation in the management of isolated craniosynostosis: a survey of the Synostosis Research Group. 38
30215587 2018
5
Multicentre approach to epidemiological aspects of craniosynostosis in Germany. 38
30360905 2018
6
Subjective Assessment of Head and Facial Appearance in Children with Craniosynostoses after Surgical Treatment. 38
30355964 2018
7
Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis. 38
29688857 2018
8
Multidisciplinary care of craniosynostosis. 38
28740400 2017
9
Surgical Correction of Nonsyndromic Sagittal Craniosynostosis: Concepts and Controversies. 38
26808733 2017
10
Comparison Between Two Different Isolated Craniosynostosis Techniques: Does It Affect Cranial Bone Growth? 38
27315320 2016
11
A case of unilateral coronal synostosis from Medieval Hungary (9th century A.D.). 38
26555924 2016
12
The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis. 38
27049321 2016
13
A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a. 38
24887031 2014
14
Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome. 38
25071892 2014
15
Maternal periconceptional occupational exposure to pesticides and selected musculoskeletal birth defects. 38
23871272 2014
16
Isolated primary craniosynostosis in an adult: Imaging findings of a case. 38
24753669 2014
17
Chiari malformation in nonsyndromal single craniosynostosis--much ado about nothing? 38
22790904 2012
18
Avoiding CT scans in children with single-suture craniosynostosis. 38
22349960 2012
19
On Bernard Sarnat's 100th birthday: pathology and management of craniosynostosis. 38
22337384 2012
20
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. 38
22038757 2011
21
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis. 38
21910230 2011
22
Craniosynostosis genetics: The mystery unfolds. 38
22090712 2011
23
An epidemiological study of nonsyndromal craniosynostoses. 38
21187784 2011
24
IGF1R variants associated with isolated single suture craniosynostosis. 38
21204214 2011
25
Papilledema in isolated single-suture craniosynostosis: prevalence and predictive factors. 38
20072027 2010
26
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases. 38
19112545 2008
27
A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. 38
18344207 2008
28
Nonsyndromic craniosynostosis: current treatment options. 38
18562899 2008
29
Neurodevelopment of infants with single-suture craniosynostosis: presurgery comparisons with case-matched controls. 38
17440368 2007
30
Phenotypic integration of neurocranium and brain. 38
16526048 2006
31
Predicting neuropsychological development from skull imaging. 38
17945777 2006
32
Brain morphology in nonsyndromic unicoronal craniosynostosis. 38
15977220 2005
33
Single-suture craniosynostosis: a review of neurobehavioral research and theory. 38
15491988 2004
34
Cognitive impact of craniosynostosis. 38
15828715 2004
35
Pediatric cranio-facial surgery. First-year's experience with a gun applying bioabsorbable tacks. 38
15278023 2004
36
[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses]. 38
14577033 2003
37
Deciding on surgery: supporting parents of infants with craniosynostosis. 38
12739353 2003
38
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis. 38
12362036 2002
39
Central nervous system phenotypes in craniosynostosis. 38
12171474 2002
40
Isolated craniosynostosis: prenatal ultrasound of scaphocephaly with polyhydramnios. 38
11858399 2001
41
Maternal smoking and craniosynostosis. 38
10471899 1999
42
Retrospective study of nonsyndromic craniosynostosis treated over a 10-year period. 38
10388415 1999
43
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. 38
9856554 1998
44
Controversies in the diagnosis and management of craniosynostosis: a panel discussion. 38
9603550 1998
45
[Cranial development after corrective skull surgery in craniosynostosis]. 38
9658820 1998
46
[Cranial development and growth following treatment of craniosynostosis skull deformities]. 38
23526014 1998
47
Hydrocephalus and craniosynostosis. 38
9452225 1998
48
Apert's syndrome correlates with low fibroblast growth factor receptor activity in stenosed cranial sutures. 38
9558576 1998
49
Elevated levels of transforming growth factors beta 2 and beta 3 in lambdoid sutures from children with persistent plagiocephaly. 38
9257024 1997
50
The role of bone centers in the pathogenesis of craniosynostosis: an embryologic approach using CT measurements in isolated craniosynostosis and Apert and Crouzon syndromes. 38
8657773 1996

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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