MCID: SYN106
MIFTS: 32

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 craniosynostosis. 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 eye, cerebellum and spinal cord, 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 132)
# Related Disease Score Top Affiliating Genes
1 jackson-weiss syndrome 31.3 MSX2 FGFR3 FGFR2 FGFR1
2 craniosynostosis 30.8 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
3 hydrocephalus 30.5 FGFR3 FGFR2 FGFR1
4 fgfr craniosynostosis syndromes 30.4 FGFR3 FGFR2 FGFR1
5 beare-stevenson cutis gyrata syndrome 30.4 FGFR3 FGFR2
6 muenke syndrome 30.1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
7 plagiocephaly 30.1 TWIST1 FGFR3 FGFR2 FGFR1
8 apert syndrome 30.1 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
9 strabismus 29.9 TWIST1 FGFR3 FGFR2
10 antley-bixler syndrome 29.9 FGFR3 FGFR2 FGFR1
11 crouzon syndrome 29.8 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
12 pfeiffer syndrome 29.7 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
13 chromosome 2q35 duplication syndrome 29.7 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
14 synostosis 29.7 TWIST1 RUNX2 MSX2 IFT122 FGFR3 FGFR2
15 saethre-chotzen syndrome 29.6 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
16 cleidocranial dysplasia 29.4 RUNX2 MSX2 FGFR2 FGFR1
17 dysostosis 29.2 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
18 brachydactyly 29.1 RUNX2 MSX2 IFT122 FGFR3 ERF
19 cleft palate, isolated 28.9 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
20 curry-jones syndrome 11.0
21 benallegue lacete syndrome 11.0
22 warman mulliken hayward syndrome 11.0
23 sleep apnea 10.6
24 intracranial hypertension 10.5
25 papilledema 10.4
26 exophthalmos 10.4
27 hemifacial hyperplasia 10.3 FGFR3 FGFR2
28 testicular spermatocytic seminoma 10.2 FGFR3 FGFR2
29 dacryocystocele 10.2 FGFR3 FGFR2
30 chronic inflammation of lacrimal passage 10.2 FGFR3 FGFR2
31 luteoma 10.2 FGFR3 FGFR2
32 acanthoma 10.2 FGFR3 FGFR2
33 isolated scaphocephaly 10.2 TWIST1 ERF
34 isolated plagiocephaly 10.2 TWIST1 FGFR3
35 isolated brachycephaly 10.2 TWIST1 FGFR3
36 pigmentation disease 10.2 FGFR3 FGFR2
37 hepatocellular clear cell carcinoma 10.2 FGFR2 FGFR1
38 acanthosis nigricans 10.2
39 hypertelorism 10.2
40 chiari malformation 10.2
41 osteochondroma 10.1 FGFR3 FGFR1
42 isolated oxycephaly 10.1 TWIST1 ERF
43 parietal foramina with cleidocranial dysplasia 10.1 RUNX2 MSX2
44 exencephaly 10.1 TFAP2B MSX2
45 craniosynostosis 2 10.1
46 craniosynostosis 3 10.1
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
48 central sleep apnea 10.1
49 cerebrospinal fluid leak 10.1
50 carpenter syndrome 1 10.1 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:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 ERF FGFR1 FGFR2 FGFR3 IFT122 RUNX2
2 craniofacial MP:0005382 10.21 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
3 cardiovascular system MP:0005385 10.19 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 limbs/digits/tail MP:0005371 10.06 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
8 digestive/alimentary MP:0005381 10.04 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
9 integument MP:0010771 9.98 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SPP1
10 nervous system MP:0003631 9.96 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
11 muscle MP:0005369 9.87 FGFR1 FGFR2 MSX2 RUNX2 SPP1 TFAP2B
12 renal/urinary system MP:0005367 9.63 ERF FGFR1 FGFR2 FGFR3 SPP1 TFAP2B
13 skeleton MP:0005390 9.56 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
14 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
Eye, Cerebellum, Spinal Cord, Cervix

Publications for Syndromic Craniosynostosis

Articles related to Syndromic Craniosynostosis:

(show top 50) (show all 478)
# Title Authors PMID Year
1
Assessment of long-term quality of life in patients with syndromic craniosynostosis. 61
33039308 2021
2
Computer tomography-based quantitative analysis of the orbital proptosis severity in infants with syndromic craniosynostosis: case-control study. 61
33559055 2021
3
Supratentorial vs infratentorial posterior calvarial distraction osteogenesis for the increase of ICV in children with syndromic or multi-suture craniosynostosis: a retrospective cohort study. 61
33544163 2021
4
Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis. 61
33177467 2021
5
Reply: Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis. 61
33177468 2021
6
Influence of Monobloc/Le Fort III Surgery on the Developing Posterior Maxillary Dentition and Its Resultant Effect on Orthognathic Surgery. 61
33235043 2021
7
Advanced parental age: Is it contributing to an increased incidence of non-syndromic craniosynostosis? A review of case-control studies. 61
33376670 2021
8
A Technique for Minimizing the Need for Hemotransfusion in Non-Syndromic Craniosynostosis Surgery. 61
32868732 2021
9
Midface Morphology and Growth in Syndromic Craniosynostosis Patients Following Frontofacial Monobloc Distraction. 61
33136785 2021
10
Optic Canal Analysis in Syndromic Craniosynostosis: Volumetric and Surface Area Validation Study Using Different Measurement Modalities. 61
33156163 2021
11
A Role for Artificial Intelligence in the Classification of Craniofacial Anomalies. 61
33405463 2021
12
Complications Due to Cranial Distraction for Craniosynostosis. 61
33156168 2021
13
Distinguishing craniomorphometric characteristics and severity in metopic synostosis patients. 61
33483210 2021
14
Intraoperative absent bilateral medial recti in syndromic craniosynostosis. 61
33461988 2021
15
Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant. 61
33404724 2021
16
Cervical Spinal Cord Compression and Sleep-Disordered Breathing in Syndromic Craniosynostosis. 61
33272949 2021
17
3D printing guided surgery in the treatment of unicoronal craniosynostosis orbital dysmorphology. 61
32592098 2020
18
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis. 61
33288889 2020
19
Revisiting the Resolution of Chiari Malformation in Nonsyndromic Craniosynostosis: A Case of Posterior Cranial Vault Reconstruction in Secondary Pan-Suture Synostosis. 61
32730962 2020
20
Secondary vault reconstruction after open or minimal invasive correction for unisutural, multisutural or syndromic craniosynostosis: A cohort study on the impact of diagnosis and type of initial surgical technique. 61
33189617 2020
21
A Pilot Study of Identification Genetic Background of Craniosynostosis Cases in Turkey. 61
33252532 2020
22
Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome. 61
32877875 2020
23
Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion. 61
33173703 2020
24
Novel Suturectomy Using Absorbable Plates in Early Surgery for Craniosynostosis. 61
32890152 2020
25
Computational modelling of patient specific spring assisted lambdoid craniosynostosis correction. 61
33122820 2020
26
Understanding families' experiences following a diagnosis of non-syndromic craniosynostosis: a qualitative study. 61
32973048 2020
27
Long Term Speech Outcomes Following Midface Advancement in Syndromic Craniosynostosis. 61
32502111 2020
28
Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature. 61
32487807 2020
29
Neurological deficits are present in syndromic craniosynostosis patients with and without tonsillar herniation. 61
32782184 2020
30
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis. 61
32510873 2020
31
Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis. 61
32360898 2020
32
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. 61
32620954 2020
33
Intracranial Volume and Head Circumference in Children with Unoperated Syndromic Craniosynostosis: Correction. 61
32590668 2020
34
A new technique linking cognitive impairment to raised intracranial pressure in syndromic craniosynostosis. 61
32167158 2020
35
Intracranial hypertension and cortical thickness in syndromic craniosynostosis. 61
32060907 2020
36
The influence of fronto-facial monobloc advancement on obstructive sleep apnea: An assessment of 109 syndromic craniosynostoses cases. 61
32354613 2020
37
Ventricular shunt complications in patients undergoing posterior vault distraction osteogenesis. 61
31696291 2020
38
Retropalatal Cross-Sectional Area Is Predictive of Obstructive Sleep Apnea in Patients With Syndromic Craniosynostosis. 61
31648545 2020
39
The Effect of Fronto-Orbital Advancement on Frontal Sinus Development and Function in Non-Syndromic and Syndromic Craniosynostosis. 61
32049902 2020
40
Behavioral functioning of school-aged children with non-syndromic craniosynostosis. 61
31823068 2020
41
Craniosynostosis: To Study the Spectrum and Outcome of Surgical Intervention at a Tertiary Referral Institute in India. 61
33042234 2020
42
Craniosynostosis and oculomotor disorders. 61
31866515 2020
43
Epidemiology of craniosynostosis in Norway. 61
32244202 2020
44
Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis. 61
32221227 2020
45
PIN1 Attenuation Improves Midface Hypoplasia in a Mouse Model of Apert Syndrome. 61
31869252 2020
46
A novel RBF-based predictive tool for facial distraction surgery in growing children with syndromic craniosynostosis. 61
31673962 2020
47
An internal distraction device for midface distraction osteogenesis: The NAVID system type Z'gok. 61
31473118 2020
48
Dural sinus volume in children with syndromic craniosynostosis and intracranial hypertension. 61
32005014 2020
49
Minimally Invasive Endoscopic Surgery for Infantile Craniosynostosis: A Longitudinal Cohort Study. 61
31685225 2020
50
Multidisciplinary care for a patient with syndromic craniosynostosis: A case report with 20 years of special care. 61
31850547 2020

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 SPP1 FGFR3 FGFR2 FGFR1
2
Show member pathways
12.15 FGFR3 FGFR2 FGFR1
3
Show member pathways
12.14 FGFR3 FGFR2 FGFR1
4
Show member pathways
12.12 FGFR3 FGFR2 FGFR1
5 12.1 FGFR3 FGFR2 FGFR1
6
Show member pathways
11.99 FGFR3 FGFR2 FGFR1
7
Show member pathways
11.87 FGFR3 FGFR2 FGFR1
8 11.82 FGFR3 FGFR2 FGFR1
9 11.79 FGFR3 FGFR2 FGFR1
10 11.59 SPP1 RUNX2 MSX2
11 11.53 FGFR3 FGFR2 FGFR1
12 11.39 FGFR3 FGFR2 FGFR1
13 11.27 SPP1 RUNX2 FGFR3 FGFR1
14 11.15 SPP1 RUNX2
15 11.15 FGFR3 FGFR2 FGFR1
16 11.11 TWIST1 TFAP2B MSX2 FGFR3 FGFR2 FGFR1
17 11.07 FGFR3 FGFR2 FGFR1
18 10.93 SPP1 RUNX2 FGFR2 FGFR1
19 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 nucleus GO:0005634 9.81 TWIST1 TFAP2B SMC1A RUNX2 MSX2 FGFR3
2 chromatin GO:0000785 9.35 TWIST1 TFAP2B RUNX2 MSX2 ERF
3 receptor complex GO:0043235 8.8 FGFR3 FGFR2 FGFR1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 TWIST1 TFAP2B MSX2 FGFR2 ERF
2 negative regulation of transcription, DNA-templated GO:0045892 9.92 TWIST1 TFAP2B RUNX2 MSX2
3 multicellular organism development GO:0007275 9.91 TWIST1 MSX2 IFT122 FGFR3 FGFR2 FGFR1
4 positive regulation of cell proliferation GO:0008284 9.8 TFAP2B RUNX2 FGFR3 FGFR2 FGFR1
5 positive regulation of protein kinase B signaling GO:0051897 9.77 FGFR3 FGFR2 FGFR1
6 protein autophosphorylation GO:0046777 9.77 FGFR3 FGFR2 FGFR1
7 skeletal system development GO:0001501 9.76 RUNX2 FGFR3 FGFR1
8 peptidyl-tyrosine phosphorylation GO:0018108 9.75 FGFR3 FGFR2 FGFR1
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.73 FGFR3 FGFR2 FGFR1
10 positive regulation of MAPK cascade GO:0043410 9.71 FGFR3 FGFR2 FGFR1
11 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 FGFR3 FGFR2 FGFR1
12 positive regulation of kinase activity GO:0033674 9.65 FGFR3 FGFR2 FGFR1
13 odontogenesis GO:0042476 9.63 TWIST1 FGFR2
14 bone morphogenesis GO:0060349 9.63 FGFR3 FGFR2
15 embryonic forelimb morphogenesis GO:0035115 9.62 TWIST1 RUNX2
16 endochondral ossification GO:0001958 9.61 RUNX2 FGFR3
17 negative regulation of smoothened signaling pathway GO:0045879 9.61 RUNX2 IFT122
18 regulation of osteoblast differentiation GO:0045667 9.57 RUNX2 FGFR2
19 regulation of cell differentiation GO:0045595 9.54 TFAP2B RUNX2 FGFR1
20 hindlimb morphogenesis GO:0035137 9.52 TWIST1 TFAP2B
21 endochondral bone growth GO:0003416 9.51 FGFR3 FGFR2
22 skeletal system morphogenesis GO:0048705 9.5 RUNX2 FGFR2 FGFR1
23 cranial suture morphogenesis GO:0060363 9.46 TWIST1 MSX2
24 ossification GO:0001503 9.46 TWIST1 SPP1 RUNX2 MSX2
25 embryonic cranial skeleton morphogenesis GO:0048701 9.43 TWIST1 RUNX2 FGFR2
26 osteoblast differentiation GO:0001649 9.26 TWIST1 SPP1 RUNX2 MSX2
27 positive regulation of phospholipase activity GO:0010518 8.8 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.88 TWIST1 TFAP2B SMC1A RUNX2 MSX2 ERF
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 TWIST1 TFAP2B RUNX2 MSX2 ERF
3 DNA-binding transcription factor activity GO:0003700 9.76 TWIST1 TFAP2B RUNX2 ERF
4 protein homodimerization activity GO:0042803 9.73 TWIST1 TFAP2B FGFR2 FGFR1
5 protein tyrosine kinase activity GO:0004713 9.43 FGFR3 FGFR2 FGFR1
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
7 bHLH transcription factor binding GO:0043425 9.32 TWIST1 RUNX2
8 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
9 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
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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