MCID: SYN106
MIFTS: 35

Syndromic Craniosynostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Craniosynostosis

MalaCards integrated aliases for Syndromic Craniosynostosis:

Name: Syndromic Craniosynostosis 59

Classifications:



External Ids:

Orphanet 59 ORPHA139393

Summaries for Syndromic Craniosynostosis

MalaCards based summary : Syndromic Craniosynostosis is related to jackson-weiss syndrome and apert syndrome. An important gene associated with Syndromic Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone, brain and testes, and related phenotypes are cellular and craniofacial

Related Diseases for Syndromic Craniosynostosis

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

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 jackson-weiss syndrome 33.0 FGFR3 FGFR2 FGFR1
2 apert syndrome 32.0 TWIST1 FGFR3 FGFR2 FGFR1
3 craniosynostosis 31.5 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ERF
4 exophthalmos 30.8 FGFR3 FGFR2
5 beare-stevenson cutis gyrata syndrome 30.4 FGFR3 FGFR2
6 chromosome 2q35 duplication syndrome 30.4 FGFR3 FGFR2
7 muenke syndrome 30.2 TWIST1 FGFR3 FGFR2 FGFR1
8 antley-bixler syndrome 30.2 FGFR2 FGFR1
9 craniosynostosis 1 30.0 TWIST1 ERF
10 strabismus 30.0 TWIST1 FGFR3 FGFR2
11 plagiocephaly 29.9 TWIST1 FGFR3 FGFR2 FGFR1
12 crouzon syndrome 29.8 MSX2 FGFR3 FGFR2 FGFR1 ERF
13 cleidocranial dysplasia 29.7 RUNX2 MSX2
14 pfeiffer syndrome 29.6 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1
15 dysostosis 29.6 TWIST1 RUNX2 FGFR2
16 synostosis 29.2 TWIST1 MSX2 IFT122 FGFR3 FGFR2 FGFR1
17 saethre-chotzen syndrome 28.7 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
18 baller-gerold syndrome 11.7
19 warman mulliken hayward syndrome 11.6
20 craniosynostosis 2 11.5
21 robinow-sorauf syndrome 11.5
22 curry-jones syndrome 11.4
23 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.4
24 lin-gettig syndrome 11.4
25 craniosynostosis-mental retardation-clefting syndrome 11.2
26 gomez-lopez-hernandez syndrome 11.2
27 cdags syndrome 11.2
28 benallegue lacete syndrome 11.1
29 hydrocephalus, autosomal dominant 11.0
30 3mc syndrome 1 11.0
31 craniosynostosis and dental anomalies 11.0
32 3mc syndrome 11.0
33 baraitser rodeck garner syndrome 11.0
34 calabro syndrome 11.0
35 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 11.0
36 hunter-mcalpine syndrome 11.0
37 iida kannari syndrome 11.0
38 samson gardner syndrome 11.0
39 hemifacial hyperplasia 10.5 FGFR3 FGFR2
40 sleep apnea 10.4
41 isolated plagiocephaly 10.4 TWIST1 FGFR3
42 isolated brachycephaly 10.4 TWIST1 FGFR3
43 luteoma 10.4 FGFR3 FGFR2
44 fibrolamellar carcinoma 10.4 FGFR2 FGFR1
45 isolated scaphocephaly 10.3 TWIST1 ERF
46 hypertropia 10.3 FGFR3 FGFR2
47 intracranial hypertension 10.3
48 papilledema 10.3
49 hydrocephalus 10.2
50 congenital hydrocephalus 10.2

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



Diseases related to Syndromic Craniosynostosis

Symptoms & Phenotypes for Syndromic Craniosynostosis

MGI Mouse Phenotypes related to Syndromic Craniosynostosis:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.19 ERF FGFR1 FGFR2 FGFR3 IFT122 RUNX2
2 craniofacial MP:0005382 10.18 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
3 cardiovascular system MP:0005385 10.15 ERF FGFR1 FGFR2 IFT122 MSX2 RUNX2
4 growth/size/body region MP:0005378 10.13 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
5 hematopoietic system MP:0005397 10.06 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
6 digestive/alimentary MP:0005381 10.05 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
7 mortality/aging MP:0010768 10.02 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
8 immune system MP:0005387 9.98 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SMC1A
9 embryo MP:0005380 9.97 ERF FGFR1 FGFR2 IFT122 MSX2 TWIST1
10 limbs/digits/tail MP:0005371 9.91 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
11 integument MP:0010771 9.88 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SPP1
12 nervous system MP:0003631 9.81 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
13 muscle MP:0005369 9.73 FGFR1 FGFR2 MSX2 RUNX2 SPP1 TWIST1
14 skeleton MP:0005390 9.56 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
15 vision/eye MP:0005391 9.1 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2

Drugs & Therapeutics for Syndromic Craniosynostosis

Search Clinical Trials , NIH Clinical Center for Syndromic Craniosynostosis

Genetic Tests for Syndromic Craniosynostosis

Anatomical Context for Syndromic Craniosynostosis

MalaCards organs/tissues related to Syndromic Craniosynostosis:

41
Bone, Brain, Testes, Cervix, Eye, Cerebellum

Publications for Syndromic Craniosynostosis

Articles related to Syndromic Craniosynostosis:

(show top 50) (show all 419)
# Title Authors PMID Year
1
Critical Growth Processes for the Midfacial Morphogenesis in the Early Prenatal Period. 38
30773047 2019
2
Correction for Timberlake et al., Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 38
31405973 2019
3
Discussion: Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal Versus External Midface Distraction for Syndromic Craniosynostosis., by Bertrand AA, Lipman KJ, Bradley JP, Reidhead J, Lee JC. 38
31385894 2019
4
Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal Versus External Midface Distraction for Syndromic Craniosynostosis. 38
31385890 2019
5
Muenke syndrome: Medical and surgical comorbidities and long-term management. 38
31111620 2019
6
Intracranial Venous Hypertension in Craniosynostosis: Mechanistic Underpinnings and Therapeutic Implications. 38
30092478 2019
7
Onset and resolution of Chiari malformations and hydrocephalus in syndromic craniosynostosis following posterior vault distraction. 38
31274746 2019
8
Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. 38
30585077 2019
9
Follow-up study to investigate symmetry and stability of cranioplasty in craniosynostosis - Introduction of new pathology-specific parameters and a comparison to the norm population. 38
31353298 2019
10
Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods. 38
30132994 2019
11
Chiari I malformation in defined genetic syndromes in children: are there common pathways? 38
31363831 2019
12
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 38
31292255 2019
13
Role of Autologous Fat Injection in Neglected Patients With Anterior Plagiocephaly. 38
31188244 2019
14
Zygomatic Rotation-Advancement: A New Concept for the Correction of Exorbitism in Patients With Syndromic Craniosynostosis. 38
31246629 2019
15
A Novel Technique Using "W-Shaped Steel Wire Suspension System" to Improve the Stability of Rigid External Distraction Devise in a Child with Apert Syndrome. 38
31232989 2019
16
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 38
31016899 2019
17
Chiari type I and hydrocephalus. 38
31227858 2019
18
Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis. 38
30997567 2019
19
Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method. 38
30817519 2019
20
Le Fort III in Syndromic Craniosynostosis: Cost Comparison of Distraction Osteogenesis Versus Single-Stage Internal Fixation Techniques. 38
31106169 2019
21
Nonsyndromic Craniosynostosis. 38
30851746 2019
22
Syndromic Craniosynostosis. 38
30851747 2019
23
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. 38
30758909 2019
24
Infant Midnasal Stenosis: Reliability of Nasal Metrics. 38
30765383 2019
25
Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis. 38
30661112 2019
26
Apert syndrome without craniosynostosis. 38
30643948 2019
27
The turricephaly index: A validated method for recording turricephaly and its natural history in Apert syndrome. 38
30683622 2019
28
Eruption of Maxillary Posterior Permanent Molars following Early Conventional Le Fort III Advancement and Early Le Fort III Distraction Procedures Compared to Late Surgical Intervention. 38
30817661 2019
29
Perioperative Outcomes of Secondary Frontal Orbital Advancement After Posterior Vault Distraction Osteogenesis. 38
31137452 2019
30
Retroposition of the Globe After Le Fort III Midfacial Distraction. 38
30531276 2019
31
Retrospective Review of the Complication Profile Associated with 71 Subcranial and Transcranial Midface Distraction Procedures at a Single Institution. 38
30531617 2019
32
Non-Syndromic Craniosynostosis Mimicking Primary Pseudotumor Cerebri Syndrome. 38
30474204 2019
33
Mouse Models of Syndromic Craniosynostosis. 38
30976280 2019
34
Syndromic Craniosynostosis: Complexities of Clinical Care. 38
30976282 2019
35
Reliable manifestations of increased intracranial pressure in patients with syndromic craniosynostosis. 38
30497950 2019
36
Correlation between Papilledema and Intracranial Hypertension in Crouzon Syndrome: A Case Report and Review of the Literature. 38
31269504 2019
37
Posterior Distraction First or Fronto-Orbital Advancement First for Severe Syndromic Craniosynostosis. 38
30418288 2019
38
Perinasal Osteotomy With Distraction Osteogenesis for a Mild Syndromic Craniosynostosis. 38
30418289 2019
39
Non-syndromic craniosynostosis treated by frontal orbital advancement: A case report. 38
30647221 2018
40
Optic Nerve Hypoplasia and Crouzon Syndrome. 38
30571838 2018
41
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. 38
30391508 2018
42
Airway anomalies in patients with craniosynostosis. 38
30456762 2018
43
Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse. 38
30266836 2018
44
Intracranial Volume and Head Circumference in Children with Unoperated Syndromic Craniosynostosis. 38
30113443 2018
45
Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome. 38
30022259 2018
46
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome. 38
30040876 2018
47
Prevention of recurrence post leptomeningeal cyst repair. 38
30351293 2018
48
[Three-Dimensional Skull Model with Vascular Structures for Occipital Expansion in Patients with Developed Occipital Emissary Veins]. 38
30369489 2018
49
Proptosis Correction in Pre-Adolescent Patients With Syndromic Craniosynostosis by Le Fort III Distraction Osteogenesis. 38
29771833 2018
50
Evaluating the National Surgical Quality Improvement Program-Pediatric Surgical Risk Calculator for Pediatric Craniosynostosis Surgery. 38
29877982 2018

Variations for Syndromic Craniosynostosis

Expression for Syndromic Craniosynostosis

Search GEO for disease gene expression data for Syndromic Craniosynostosis.

Pathways for Syndromic Craniosynostosis

Pathways related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 SPP1 FGFR3 FGFR2 FGFR1
2
Show member pathways
12.69 SPP1 FGFR3 FGFR2 FGFR1
3
Show member pathways
12.27 FGFR3 FGFR2 FGFR1
4
Show member pathways
12.2 FGFR3 FGFR2 FGFR1
5
Show member pathways
12.19 FGFR3 FGFR2 FGFR1
6
Show member pathways
12.15 FGFR3 FGFR2 FGFR1
7
Show member pathways
12.14 FGFR3 FGFR2 FGFR1
8
Show member pathways
12.01 FGFR3 FGFR2 FGFR1
9
Show member pathways
11.97 FGFR3 FGFR2 FGFR1
10
Show member pathways
11.94 FGFR3 FGFR2 FGFR1
11 11.87 FGFR3 FGFR2 FGFR1
12
Show member pathways
11.87 FGFR3 FGFR2 FGFR1
13 11.8 FGFR3 FGFR2 FGFR1
14 11.76 FGFR3 FGFR2 FGFR1
15 11.53 FGFR3 FGFR2 FGFR1
16 11.38 FGFR3 FGFR2 FGFR1
17 11.31 TWIST1 RUNX2
18 11.27 SPP1 RUNX2 FGFR3 FGFR1
19 11.26 SPP1 RUNX2
20 11.16 SPP1 RUNX2
21 11.15 FGFR3 FGFR2 FGFR1
22 11.15 FGFR3 FGFR2 FGFR1
23 11.07 FGFR3 FGFR2 FGFR1
24 11.03 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
25 10.93 SPP1 RUNX2 FGFR2 FGFR1
26 10.8 FGFR3 FGFR2 FGFR1
27 10.73 SPP1 FGFR3 FGFR2 FGFR1

GO Terms for Syndromic Craniosynostosis

Cellular components related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 FGFR3 FGFR2 FGFR1

Biological processes related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.97 RUNX2 FGFR3 FGFR2 FGFR1
2 MAPK cascade GO:0000165 9.86 FGFR3 FGFR2 FGFR1
3 in utero embryonic development GO:0001701 9.86 TWIST1 FGFR2 FGFR1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.83 FGFR3 FGFR2 FGFR1
5 protein autophosphorylation GO:0046777 9.83 FGFR3 FGFR2 FGFR1
6 positive regulation of protein kinase B signaling GO:0051897 9.83 FGFR3 FGFR2 FGFR1
7 skeletal system development GO:0001501 9.82 RUNX2 FGFR3 FGFR1
8 positive regulation of MAPK cascade GO:0043410 9.81 FGFR3 FGFR2 FGFR1
9 ossification GO:0001503 9.78 TWIST1 RUNX2 MSX2
10 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 FGFR3 FGFR2 FGFR1
11 embryonic digit morphogenesis GO:0042733 9.72 TWIST1 MSX2 IFT122
12 embryonic limb morphogenesis GO:0030326 9.71 TWIST1 MSX2 FGFR1
13 ureteric bud development GO:0001657 9.7 FGFR2 FGFR1
14 bone mineralization GO:0030282 9.7 FGFR3 FGFR2
15 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.7 FGFR3 FGFR2
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.7 FGFR2 FGFR1
17 midbrain development GO:0030901 9.69 FGFR2 FGFR1
18 cell maturation GO:0048469 9.69 RUNX2 FGFR1
19 stem cell differentiation GO:0048863 9.68 RUNX2 MSX2
20 outflow tract septum morphogenesis GO:0003148 9.68 MSX2 FGFR2
21 embryonic hindlimb morphogenesis GO:0035116 9.68 TWIST1 MSX2
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 FGFR2 FGFR1
23 endochondral ossification GO:0001958 9.67 RUNX2 FGFR3
24 skeletal system morphogenesis GO:0048705 9.67 RUNX2 FGFR2 FGFR1
25 negative regulation of smoothened signaling pathway GO:0045879 9.66 RUNX2 IFT122
26 osteoblast development GO:0002076 9.65 RUNX2 MSX2
27 chondrocyte differentiation GO:0002062 9.65 RUNX2 FGFR3 FGFR1
28 chondrocyte development GO:0002063 9.64 RUNX2 MSX2
29 regulation of osteoblast differentiation GO:0045667 9.63 RUNX2 FGFR2
30 embryonic cranial skeleton morphogenesis GO:0048701 9.63 TWIST1 RUNX2 FGFR2
31 branching involved in salivary gland morphogenesis GO:0060445 9.62 FGFR2 FGFR1
32 mesenchymal cell differentiation GO:0048762 9.62 FGFR2 FGFR1
33 osteoblast differentiation GO:0001649 9.62 TWIST1 SPP1 RUNX2 MSX2
34 odontogenesis GO:0042476 9.61 TWIST1 MSX2 FGFR2
35 outer ear morphogenesis GO:0042473 9.6 TWIST1 FGFR1
36 lung-associated mesenchyme development GO:0060484 9.59 FGFR2 FGFR1
37 bone morphogenesis GO:0060349 9.58 MSX2 FGFR3 FGFR2
38 cranial suture morphogenesis GO:0060363 9.57 TWIST1 MSX2
39 negative regulation of apoptotic process GO:0043066 9.56 TWIST1 MSX2
40 cell differentiation GO:0030154 9.56 TWIST1 SPP1 RUNX2 ERF
41 orbitofrontal cortex development GO:0021769 9.52 FGFR2 FGFR1
42 ventricular zone neuroblast division GO:0021847 9.51 FGFR2 FGFR1
43 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.37 FGFR2 FGFR1
44 positive regulation of phospholipase activity GO:0010518 9.33 FGFR3 FGFR2 FGFR1
45 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.27 RUNX2
46 endochondral bone growth GO:0003416 9.13 MSX2 FGFR3 FGFR2
47 embryonic forelimb morphogenesis GO:0035115 8.92 TWIST1 RUNX2 MSX2 IFT122
48 negative regulation of transcription by RNA polymerase II GO:0000122 10.01 TWIST1 MSX2 FGFR2 FGFR1 ERF

Molecular functions related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.8 SMC1A RUNX2 FGFR3 FGFR2 FGFR1
2 nucleotide binding GO:0000166 9.56 SMC1A FGFR3 FGFR2 FGFR1
3 protein tyrosine kinase activity GO:0004713 9.5 FGFR3 FGFR2 FGFR1
4 bHLH transcription factor binding GO:0043425 9.37 TWIST1 RUNX2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
6 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
7 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Syndromic 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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