MCID: SYN106
MIFTS: 34

Syndromic Craniosynostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Craniosynostosis

MalaCards integrated aliases for Syndromic Craniosynostosis:

Name: Syndromic Craniosynostosis 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 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 PI3K-Akt signaling pathway and Apoptosis Pathway. Affiliated tissues include bone, heart and brain, 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 166)
# Related Disease Score Top Affiliating Genes
1 jackson-weiss syndrome 32.9 FGFR3 FGFR2 FGFR1
2 apert syndrome 30.6 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
3 exophthalmos 30.4 FGFR3 FGFR2 FGFR1
4 craniosynostosis 30.4 TWIST1 SPP1 RUNX2 MSX2 FGFR3 FGFR2
5 beare-stevenson cutis gyrata syndrome 30.2 FGFR3 FGFR2
6 hydrocephalus 30.0 TWIST1 FGFR3 FGFR2 FGFR1
7 fgfr-related craniosynostosis syndromes 30.0 FGFR3 FGFR2 FGFR1
8 strabismus 30.0 TWIST1 FGFR3 FGFR2
9 plagiocephaly 29.7 TWIST1 FGFR3 FGFR2 FGFR1
10 muenke syndrome 29.6 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
11 antley-bixler syndrome 29.6 FGFR3 FGFR2 FGFR1
12 chromosome 2q35 duplication syndrome 29.5 MSX2 FGFR3 FGFR2 FGFR1
13 pfeiffer syndrome 29.1 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
14 cleidocranial dysplasia 28.8 RUNX2 MSX2 FGFR2 FGFR1
15 saethre-chotzen syndrome 28.8 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
16 crouzon syndrome 28.8 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
17 synostosis 28.5 TWIST1 RUNX2 MSX2 IFT122 FGFR3 FGFR2
18 dysostosis 28.3 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
19 brachydactyly 28.2 RUNX2 MSX2 IFT122 FGFR3 ERF
20 baller-gerold syndrome 11.7
21 warman mulliken hayward syndrome 11.6
22 craniosynostosis 2 11.5
23 robinow-sorauf syndrome 11.5
24 curry-jones syndrome 11.4
25 lin-gettig syndrome 11.4
26 craniosynostosis-mental retardation-clefting syndrome 11.2
27 gomez-lopez-hernandez syndrome 11.2
28 cdags syndrome 11.2
29 benallegue lacete syndrome 11.1
30 hydrocephalus, autosomal dominant 11.0
31 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.0
32 3mc syndrome 1 11.0
33 hunter-mcalpine craniosynostosis syndrome 11.0
34 craniosynostosis and dental anomalies 11.0
35 3mc syndrome 11.0
36 baraitser rodeck garner syndrome 11.0
37 braddock jones superneau syndrome 11.0
38 calabro syndrome 11.0
39 iida kannari syndrome 11.0
40 samson gardner syndrome 11.0
41 sleep apnea 10.5
42 intracranial hypertension 10.3
43 isolated scaphocephaly 10.3 TWIST1 ERF
44 hemifacial hyperplasia 10.3 FGFR3 FGFR2
45 craniosynostosis 1 10.3 TWIST1 ERF
46 isolated plagiocephaly 10.3 TWIST1 FGFR3
47 isolated brachycephaly 10.3 TWIST1 FGFR3
48 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
49 papilledema 10.3
50 luteoma 10.3 FGFR3 FGFR2

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:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 ERF FGFR1 FGFR2 FGFR3 IFT122 RUNX2
2 craniofacial MP:0005382 10.19 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
3 cardiovascular system MP:0005385 10.16 ERF FGFR1 FGFR2 IFT122 MSX2 RUNX2
4 growth/size/body region MP:0005378 10.15 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
5 hematopoietic system MP:0005397 10.08 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
6 digestive/alimentary MP:0005381 10.07 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
7 mortality/aging MP:0010768 10.07 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
8 immune system MP:0005387 10 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SMC1A
9 embryo MP:0005380 9.99 ERF FGFR1 FGFR2 IFT122 MSX2 TWIST1
10 limbs/digits/tail MP:0005371 9.95 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
11 integument MP:0010771 9.91 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SPP1
12 nervous system MP:0003631 9.91 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
13 muscle MP:0005369 9.8 FGFR1 FGFR2 MSX2 RUNX2 SPP1 TWIST1
14 skeleton MP:0005390 9.56 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
15 renal/urinary system MP:0005367 9.55 ERF FGFR1 FGFR2 FGFR3 SPP1
16 vision/eye MP:0005391 9.17 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:

40
Bone, Heart, Brain, Eye, Cerebellum, Testes, Cervix

Publications for Syndromic Craniosynostosis

Articles related to Syndromic Craniosynostosis:

(show top 50) (show all 440)
# Title Authors PMID Year
1
PIN1 Attenuation Improves Midface Hypoplasia in a Mouse Model of Apert Syndrome. 61
31869252 2020
2
A novel RBF-based predictive tool for facial distraction surgery in growing children with syndromic craniosynostosis. 61
31673962 2020
3
An internal distraction device for midface distraction osteogenesis: The NAVID system type Z'gok. 61
31473118 2020
4
Multidisciplinary care for a patient with syndromic craniosynostosis: A case report with 20 years of special care. 61
31850547 2020
5
Minimally Invasive Endoscopic Surgery for Infantile Craniosynostosis: A Longitudinal Cohort Study. 61
31685225 2020
6
The Influence of Epigenetic Factors in Four Pairs of Twins With Non-Syndromic Craniosynostosis. 61
31764566 2020
7
Dural sinus volume in children with syndromic craniosynostosis and intracranial hypertension. 61
32005014 2020
8
Behavioral Disorders of Preschool Children With Non-Syndromic Craniosynostosis. 61
31725503 2020
9
Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant. 61
31764549 2020
10
Zygomatic Rotation-Advancement: A New Concept for the Correction of Exorbitism in Patients With Syndromic Craniosynostosis. 61
31246629 2020
11
Behavioral functioning of school-aged children with non-syndromic craniosynostosis. 61
31823068 2019
12
Cerebral blood flow in children with syndromic craniosynostosis: cohort arterial spin labeling studies. 61
31881544 2019
13
Secondary Suture Fusion After Primary Correction of Non-Syndromic Craniosynostosis: Recognition of the Problem and Identification of Risk Factors. 61
31842130 2019
14
Maxillomandibular and occlusal relationships in preadolescent patients with syndromic craniosynostosis treated by LeFort III distraction osteogenesis: 10-year surgical and phenotypic stability. 61
31784011 2019
15
Discussion: Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal versus External Midface Distraction for Syndromic Craniosynostosis. 61
31385894 2019
16
Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal versus External Midface Distraction for Syndromic Craniosynostosis. 61
31385890 2019
17
Airway anomalies in patients with craniosynostosis. 61
30456762 2019
18
Ophthalmological management in craniosynostosis. 61
31574284 2019
19
Ventricular shunt complications in patients undergoing posterior vault distraction osteogenesis. 61
31696291 2019
20
Animal models of craniosynostosis. 61
31563616 2019
21
Onset and Resolution of Chiari Malformations and Hydrocephalus in Syndromic Craniosynostosis following Posterior Vault Distraction. 61
31568307 2019
22
Discussion: Onset and Resolution of Chiari Malformations and Hydrocephalus in Syndromic Craniosynostosis following Posterior Vault Distraction. 61
31568308 2019
23
Chiari type I and hydrocephalus. 61
31227858 2019
24
Retropalatal Cross-Sectional Area Is Predictive of Obstructive Sleep Apnea in Patients With Syndromic Craniosynostosis. 61
31648545 2019
25
Chiari I malformation in defined genetic syndromes in children: are there common pathways? 61
31363831 2019
26
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. 61
31232989 2019
27
Role of Autologous Fat Injection in Neglected Patients With Anterior Plagiocephaly. 61
31188244 2019
28
Critical Growth Processes for the Midfacial Morphogenesis in the Early Prenatal Period. 61
30773047 2019
29
Improvement in Sleep Architecture is associated with the Indication of Surgery in Syndromic Craniosynostosis. 61
31741814 2019
30
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. 61
31353298 2019
31
Muenke syndrome: Medical and surgical comorbidities and long-term management. 61
31111620 2019
32
Correction for Timberlake et al., Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 61
31405973 2019
33
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 61
31292255 2019
34
Intracranial Venous Hypertension in Craniosynostosis: Mechanistic Underpinnings and Therapeutic Implications. 61
30092478 2019
35
Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. 61
30585077 2019
36
Onset and resolution of Chiari malformations and hydrocephalus in syndromic craniosynostosis following posterior vault distraction. 61
31274746 2019
37
Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods. 61
30132994 2019
38
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 61
31016899 2019
39
Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis. 61
30997567 2019
40
Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method. 61
30817519 2019
41
Le Fort III in Syndromic Craniosynostosis: Cost Comparison of Distraction Osteogenesis Versus Single-Stage Internal Fixation Techniques. 61
31106169 2019
42
Nonsyndromic Craniosynostosis. 61
30851746 2019
43
Syndromic Craniosynostosis. 61
30851747 2019
44
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. 61
30758909 2019
45
Infant Midnasal Stenosis: Reliability of Nasal Metrics. 61
30765383 2019
46
Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis. 61
30661112 2019
47
Apert syndrome without craniosynostosis. 61
30643948 2019
48
The turricephaly index: A validated method for recording turricephaly and its natural history in Apert syndrome. 61
30683622 2019
49
Retroposition of the Globe After Le Fort III Midfacial Distraction. 61
30531276 2019
50
Perioperative Outcomes of Secondary Frontal Orbital Advancement After Posterior Vault Distraction Osteogenesis. 61
31137452 2019

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 SPP1 FGFR3 FGFR2 FGFR1
2
Show member pathways
12.18 FGFR3 FGFR2 FGFR1
3
Show member pathways
12.14 FGFR3 FGFR2 FGFR1
4
Show member pathways
12.13 FGFR3 FGFR2 FGFR1
5
Show member pathways
12.12 FGFR3 FGFR2 FGFR1
6
Show member pathways
11.99 FGFR3 FGFR2 FGFR1
7
Show member pathways
11.93 FGFR3 FGFR2 FGFR1
8
Show member pathways
11.85 FGFR3 FGFR2 FGFR1
9 11.8 FGFR3 FGFR2 FGFR1
10 11.76 FGFR3 FGFR2 FGFR1
11 11.53 FGFR3 FGFR2 FGFR1
12 11.38 FGFR3 FGFR2 FGFR1
13 11.27 SPP1 RUNX2 FGFR3 FGFR1
14 11.24 SPP1 RUNX2
15 11.15 SPP1 RUNX2
16 11.15 FGFR3 FGFR2 FGFR1
17 11.07 FGFR3 FGFR2 FGFR1
18 11.03 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
19 10.93 SPP1 RUNX2 FGFR2 FGFR1
20 10.71 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 46)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10 TWIST1 MSX2 FGFR2 FGFR1 ERF
2 positive regulation of cell proliferation GO:0008284 9.96 RUNX2 FGFR3 FGFR2 FGFR1
3 MAPK cascade GO:0000165 9.87 FGFR3 FGFR2 FGFR1
4 in utero embryonic development GO:0001701 9.85 TWIST1 FGFR2 FGFR1
5 positive regulation of protein kinase B signaling GO:0051897 9.83 FGFR3 FGFR2 FGFR1
6 protein autophosphorylation GO:0046777 9.83 FGFR3 FGFR2 FGFR1
7 skeletal system development GO:0001501 9.81 RUNX2 FGFR3 FGFR1
8 peptidyl-tyrosine phosphorylation GO:0018108 9.8 FGFR3 FGFR2 FGFR1
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.79 FGFR3 FGFR2 FGFR1
10 positive regulation of MAPK cascade GO:0043410 9.79 FGFR3 FGFR2 FGFR1
11 ossification GO:0001503 9.76 TWIST1 RUNX2 MSX2
12 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGFR3 FGFR2 FGFR1
13 embryonic digit morphogenesis GO:0042733 9.71 TWIST1 MSX2 IFT122
14 bone mineralization GO:0030282 9.7 FGFR3 FGFR2
15 ureteric bud development GO:0001657 9.7 FGFR2 FGFR1
16 embryonic limb morphogenesis GO:0030326 9.7 TWIST1 MSX2 FGFR1
17 positive regulation of cell cycle GO:0045787 9.69 FGFR2 FGFR1
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.69 FGFR2 FGFR1
19 cell maturation GO:0048469 9.68 RUNX2 FGFR1
20 midbrain development GO:0030901 9.68 FGFR2 FGFR1
21 stem cell differentiation GO:0048863 9.68 RUNX2 MSX2
22 embryonic hindlimb morphogenesis GO:0035116 9.67 TWIST1 MSX2
23 outflow tract septum morphogenesis GO:0003148 9.67 MSX2 FGFR2
24 endochondral ossification GO:0001958 9.67 RUNX2 FGFR3
25 skeletal system morphogenesis GO:0048705 9.67 RUNX2 FGFR2 FGFR1
26 positive regulation of mesenchymal cell proliferation GO:0002053 9.66 FGFR2 FGFR1
27 negative regulation of smoothened signaling pathway GO:0045879 9.65 RUNX2 IFT122
28 chondrocyte development GO:0002063 9.64 RUNX2 MSX2
29 osteoblast development GO:0002076 9.63 RUNX2 MSX2
30 chondrocyte differentiation GO:0002062 9.63 RUNX2 FGFR3 FGFR1
31 regulation of osteoblast differentiation GO:0045667 9.62 RUNX2 FGFR2
32 branching involved in salivary gland morphogenesis GO:0060445 9.61 FGFR2 FGFR1
33 odontogenesis GO:0042476 9.61 TWIST1 MSX2 FGFR2
34 mesenchymal cell differentiation GO:0048762 9.59 FGFR2 FGFR1
35 outer ear morphogenesis GO:0042473 9.58 TWIST1 FGFR1
36 bone morphogenesis GO:0060349 9.58 MSX2 FGFR3 FGFR2
37 lung-associated mesenchyme development GO:0060484 9.57 FGFR2 FGFR1
38 osteoblast differentiation GO:0001649 9.56 TWIST1 SPP1 RUNX2 MSX2
39 cranial suture morphogenesis GO:0060363 9.55 TWIST1 MSX2
40 embryonic cranial skeleton morphogenesis GO:0048701 9.54 TWIST1 RUNX2 FGFR2
41 orbitofrontal cortex development GO:0021769 9.51 FGFR2 FGFR1
42 ventricular zone neuroblast division GO:0021847 9.48 FGFR2 FGFR1
43 positive regulation of phospholipase activity GO:0010518 9.33 FGFR3 FGFR2 FGFR1
44 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.32 FGFR2 FGFR1
45 endochondral bone growth GO:0003416 9.13 MSX2 FGFR3 FGFR2
46 embryonic forelimb morphogenesis GO:0035115 8.92 TWIST1 RUNX2 MSX2 IFT122

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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