MCID: SYN106
MIFTS: 33

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 mTOR signalling. Affiliated tissues include bone, brain and eye, 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 170)
# Related Disease Score Top Affiliating Genes
1 jackson-weiss syndrome 32.6 MSX2 FGFR3 FGFR2 FGFR1
2 apert syndrome 31.0 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
3 craniosynostosis 30.8 TWIST1 RUNX2 MSX2 IFT122 FGFR3 FGFR2
4 exophthalmos 30.7 FGFR3 FGFR2
5 fgfr craniosynostosis syndromes 30.3 FGFR3 FGFR2 FGFR1
6 beare-stevenson cutis gyrata syndrome 30.2 FGFR3 FGFR2
7 hydrocephalus 30.1 TWIST1 FGFR3 FGFR2 FGFR1
8 strabismus 29.9 TWIST1 FGFR3 FGFR2
9 plagiocephaly 29.8 TWIST1 FGFR3 FGFR2 FGFR1
10 choanal atresia, posterior 29.8 FGFR2 FGFR1
11 muenke syndrome 29.8 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
12 antley-bixler syndrome 29.7 FGFR3 FGFR2 FGFR1
13 carpenter syndrome 1 29.5 FGFR3 FGFR2
14 chromosome 2q35 duplication syndrome 29.3 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
15 saethre-chotzen syndrome 29.2 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
16 crouzon syndrome 29.1 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
17 pfeiffer syndrome 29.1 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
18 cleidocranial dysplasia 29.1 RUNX2 MSX2 FGFR2 FGFR1
19 synostosis 29.0 TWIST1 RUNX2 MSX2 IFT122 FGFR3 FGFR2
20 dysostosis 28.8 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
21 brachydactyly 28.6 RUNX2 MSX2 IFT122 FGFR3 ERF
22 cleft palate, isolated 28.4 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
23 baller-gerold syndrome 11.7
24 warman mulliken hayward syndrome 11.7
25 craniosynostosis 2 11.5
26 robinow-sorauf syndrome 11.5
27 cdags syndrome 11.5
28 curry-jones syndrome 11.4
29 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.4
30 lin-gettig syndrome 11.4
31 gomez-lopez-hernandez syndrome 11.2
32 benallegue lacete syndrome 11.1
33 hydrocephalus, autosomal dominant 11.0
34 craniosynostosis-mental retardation-clefting syndrome 11.0
35 3mc syndrome 1 11.0
36 hunter-mcalpine craniosynostosis syndrome 11.0
37 craniosynostosis and dental anomalies 11.0
38 3mc syndrome 11.0
39 braddock jones superneau syndrome 11.0
40 calabro syndrome 11.0
41 iida kannari syndrome 11.0
42 samson gardner syndrome 11.0
43 sleep apnea 10.5
44 intracranial hypertension 10.4
45 isolated plagiocephaly 10.3 TWIST1 FGFR3
46 isolated brachycephaly 10.3 TWIST1 FGFR3
47 hemifacial hyperplasia 10.3 FGFR3 FGFR2
48 isolated scaphocephaly 10.3 TWIST1 ERF
49 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
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 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 ERF FGFR1 FGFR2 FGFR3 IFT122 RUNX2
2 craniofacial MP:0005382 10.22 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
3 cardiovascular system MP:0005385 10.2 ERF FGFR1 FGFR2 IFT122 MSX2 RUNX2
4 growth/size/body region MP:0005378 10.18 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
5 mortality/aging MP:0010768 10.11 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
6 hematopoietic system MP:0005397 10.06 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
7 digestive/alimentary MP:0005381 10.05 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
8 limbs/digits/tail MP:0005371 10.01 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
9 integument MP:0010771 9.98 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SPP1
10 embryo MP:0005380 9.97 ERF FGFR1 FGFR2 IFT122 MSX2 TWIST1
11 nervous system MP:0003631 9.96 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
12 muscle MP:0005369 9.87 FGFR1 FGFR2 MSX2 RUNX2 SPP1 TFAP2B
13 renal/urinary system MP:0005367 9.63 ERF FGFR1 FGFR2 FGFR3 SPP1 TFAP2B
14 skeleton MP:0005390 9.56 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
15 vision/eye MP:0005391 9.23 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, Brain, Eye, Cerebellum, Testes, Cervix

Publications for Syndromic Craniosynostosis

Articles related to Syndromic Craniosynostosis:

(show top 50) (show all 450)
# Title Authors PMID Year
1
Intracranial hypertension and cortical thickness in syndromic craniosynostosis. 61
32060907 2020
2
A new technique linking cognitive impairment to raised intracranial pressure in syndromic craniosynostosis. 61
32167158 2020
3
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis. 61
32510873 2020
4
Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature. 61
32487807 2020
5
Long Term Speech Outcomes Following Midface Advancement in Syndromic Craniosynostosis. 61
32502111 2020
6
The influence of fronto-facial monobloc advancement on obstructive sleep apnea: An assessment of 109 syndromic craniosynostoses cases. 61
32354613 2020
7
Retropalatal Cross-Sectional Area Is Predictive of Obstructive Sleep Apnea in Patients With Syndromic Craniosynostosis. 61
31648545 2020
8
Ventricular shunt complications in patients undergoing posterior vault distraction osteogenesis. 61
31696291 2020
9
The Effect of Fronto-Orbital Advancement on Frontal Sinus Development and Function in Non-Syndromic and Syndromic Craniosynostosis. 61
32049902 2020
10
Behavioral functioning of school-aged children with non-syndromic craniosynostosis. 61
31823068 2020
11
Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis. 61
32360898 2020
12
Craniosynostosis and oculomotor disorders. 61
31866515 2020
13
Epidemiology of craniosynostosis in Norway. 61
32244202 2020
14
Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis. 61
32221227 2020
15
PIN1 Attenuation Improves Midface Hypoplasia in a Mouse Model of Apert Syndrome. 61
31869252 2020
16
A novel RBF-based predictive tool for facial distraction surgery in growing children with syndromic craniosynostosis. 61
31673962 2020
17
An internal distraction device for midface distraction osteogenesis: The NAVID system type Z'gok. 61
31473118 2020
18
Minimally Invasive Endoscopic Surgery for Infantile Craniosynostosis: A Longitudinal Cohort Study. 61
31685225 2020
19
The Influence of Epigenetic Factors in Four Pairs of Twins With Non-Syndromic Craniosynostosis. 61
31764566 2020
20
Dural sinus volume in children with syndromic craniosynostosis and intracranial hypertension. 61
32005014 2020
21
Behavioral Disorders of Preschool Children With Non-Syndromic Craniosynostosis. 61
31725503 2020
22
Multidisciplinary care for a patient with syndromic craniosynostosis: A case report with 20 years of special care. 61
31850547 2020
23
Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant. 61
31764549 2020
24
Zygomatic Rotation-Advancement: A New Concept for the Correction of Exorbitism in Patients With Syndromic Craniosynostosis. 61
31246629 2020
25
Secondary Suture Fusion After Primary Correction of Non-Syndromic Craniosynostosis: Recognition of the Problem and Identification of Risk Factors. 61
31842130 2019
26
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
27
Cerebral blood flow in children with syndromic craniosynostosis: cohort arterial spin labeling studies. 61
31881544 2019
28
Discussion: Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal versus External Midface Distraction for Syndromic Craniosynostosis. 61
31385894 2019
29
Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal versus External Midface Distraction for Syndromic Craniosynostosis. 61
31385890 2019
30
Animal models of craniosynostosis. 61
31563616 2019
31
Airway anomalies in patients with craniosynostosis. 61
30456762 2019
32
Ophthalmological management in craniosynostosis. 61
31574284 2019
33
Chiari type I and hydrocephalus. 61
31227858 2019
34
Discussion: Onset and Resolution of Chiari Malformations and Hydrocephalus in Syndromic Craniosynostosis following Posterior Vault Distraction. 61
31568308 2019
35
Onset and Resolution of Chiari Malformations and Hydrocephalus in Syndromic Craniosynostosis following Posterior Vault Distraction. 61
31568307 2019
36
Chiari I malformation in defined genetic syndromes in children: are there common pathways? 61
31363831 2019
37
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
38
Role of Autologous Fat Injection in Neglected Patients With Anterior Plagiocephaly. 61
31188244 2019
39
Critical Growth Processes for the Midfacial Morphogenesis in the Early Prenatal Period. 61
30773047 2019
40
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
41
Improvement in Sleep Architecture is associated with the Indication of Surgery in Syndromic Craniosynostosis. 61
31741814 2019
42
Muenke syndrome: Medical and surgical comorbidities and long-term management. 61
31111620 2019
43
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
44
Intracranial Venous Hypertension in Craniosynostosis: Mechanistic Underpinnings and Therapeutic Implications. 61
30092478 2019
45
Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. 61
30585077 2019
46
Onset and resolution of Chiari malformations and hydrocephalus in syndromic craniosynostosis following posterior vault distraction. 61
31274746 2019
47
Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods. 61
30132994 2019
48
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 61
31292255 2019
49
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 61
31016899 2019
50
Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method. 61
30817519 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 SPP1 FGFR3 FGFR2 FGFR1
2
Show member pathways
12.14 FGFR3 FGFR2 FGFR1
3
Show member pathways
12.12 FGFR3 FGFR2 FGFR1
4
Show member pathways
11.99 FGFR3 FGFR2 FGFR1
5
Show member pathways
11.87 FGFR3 FGFR2 FGFR1
6 11.82 FGFR3 FGFR2 FGFR1
7 11.79 FGFR3 FGFR2 FGFR1
8 11.59 SPP1 RUNX2 MSX2
9 11.53 FGFR3 FGFR2 FGFR1
10 11.39 FGFR3 FGFR2 FGFR1
11 11.27 SPP1 RUNX2 FGFR3 FGFR1
12 11.15 FGFR3 FGFR2 FGFR1
13 11.14 SPP1 RUNX2
14 11.11 TWIST1 TFAP2B MSX2 FGFR3 FGFR2 FGFR1
15 11.07 FGFR3 FGFR2 FGFR1
16 10.93 SPP1 RUNX2 FGFR2 FGFR1
17 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 9.13 FGFR3 FGFR2 FGFR1
2 nuclear chromatin GO:0000790 9.02 TWIST1 TFAP2B RUNX2 MSX2 ERF

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.07 TWIST1 MSX2 IFT122 FGFR3 FGFR2 FGFR1
2 negative regulation of transcription, DNA-templated GO:0045892 9.99 TWIST1 TFAP2B RUNX2 MSX2
3 positive regulation of cell proliferation GO:0008284 9.97 TFAP2B RUNX2 FGFR3 FGFR2 FGFR1
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 TWIST1 TFAP2B MSX2 FGFR2 FGFR1 ERF
5 in utero embryonic development GO:0001701 9.87 TWIST1 FGFR2 FGFR1
6 positive regulation of protein kinase B signaling GO:0051897 9.85 FGFR3 FGFR2 FGFR1
7 protein autophosphorylation GO:0046777 9.84 FGFR3 FGFR2 FGFR1
8 skeletal system development GO:0001501 9.84 RUNX2 FGFR3 FGFR1
9 peptidyl-tyrosine phosphorylation GO:0018108 9.83 FGFR3 FGFR2 FGFR1
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.82 FGFR3 FGFR2 FGFR1
11 positive regulation of MAPK cascade GO:0043410 9.81 FGFR3 FGFR2 FGFR1
12 fibroblast growth factor receptor signaling pathway GO:0008543 9.78 FGFR3 FGFR2 FGFR1
13 positive regulation of kinase activity GO:0033674 9.77 FGFR3 FGFR2 FGFR1
14 embryonic digit morphogenesis GO:0042733 9.74 TWIST1 MSX2 IFT122
15 embryonic limb morphogenesis GO:0030326 9.73 TWIST1 MSX2 FGFR1
16 regulation of cell differentiation GO:0045595 9.71 TFAP2B RUNX2 FGFR1
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.7 FGFR2 FGFR1
18 cell maturation GO:0048469 9.7 RUNX2 FGFR1
19 skeletal system morphogenesis GO:0048705 9.7 RUNX2 FGFR2 FGFR1
20 midbrain development GO:0030901 9.69 FGFR2 FGFR1
21 stem cell differentiation GO:0048863 9.69 RUNX2 MSX2
22 chondrocyte differentiation GO:0002062 9.69 RUNX2 FGFR3 FGFR1
23 embryonic hindlimb morphogenesis GO:0035116 9.68 TWIST1 MSX2
24 endochondral ossification GO:0001958 9.68 RUNX2 FGFR3
25 outflow tract septum morphogenesis GO:0003148 9.68 MSX2 FGFR2
26 negative regulation of smoothened signaling pathway GO:0045879 9.68 RUNX2 IFT122
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 FGFR2 FGFR1
28 chondrocyte development GO:0002063 9.66 RUNX2 MSX2
29 osteoblast development GO:0002076 9.65 RUNX2 MSX2
30 regulation of osteoblast differentiation GO:0045667 9.64 RUNX2 FGFR2
31 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR2 FGFR1
32 hindlimb morphogenesis GO:0035137 9.63 TWIST1 TFAP2B
33 odontogenesis GO:0042476 9.63 TWIST1 MSX2 FGFR2
34 mesenchymal cell differentiation GO:0048762 9.62 FGFR2 FGFR1
35 lung-associated mesenchyme development GO:0060484 9.62 FGFR2 FGFR1
36 osteoblast differentiation GO:0001649 9.62 TWIST1 SPP1 RUNX2 MSX2
37 outer ear morphogenesis GO:0042473 9.61 TWIST1 FGFR1
38 bone morphogenesis GO:0060349 9.61 MSX2 FGFR3 FGFR2
39 cranial suture morphogenesis GO:0060363 9.58 TWIST1 MSX2
40 embryonic cranial skeleton morphogenesis GO:0048701 9.58 TWIST1 RUNX2 FGFR2
41 ossification GO:0001503 9.56 TWIST1 SPP1 RUNX2 MSX2
42 orbitofrontal cortex development GO:0021769 9.55 FGFR2 FGFR1
43 ventricular zone neuroblast division GO:0021847 9.49 FGFR2 FGFR1
44 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.37 FGFR2 FGFR1
45 positive regulation of phospholipase activity GO:0010518 9.33 FGFR3 FGFR2 FGFR1
46 endochondral bone growth GO:0003416 9.13 MSX2 FGFR3 FGFR2
47 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 TWIST1 TFAP2B RUNX2 MSX2 ERF
2 protein homodimerization activity GO:0042803 9.71 TWIST1 TFAP2B FGFR2 FGFR1
3 protein tyrosine kinase activity GO:0004713 9.43 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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