CSO
MCID: CRN037
MIFTS: 66

Craniosynostosis (CSO) malady

Categories: Rare diseases, Bone diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Craniosynostosis

Aliases & Descriptions for Craniosynostosis:

Name: Craniosynostosis 38 12 50 51 29 29 52 14 69
Premature Closure of Cranial Sutures 12
Craniosynostoses 42
Craniostenosis 50
Cso 50

Classifications:



External Ids:

Disease Ontology 12 DOID:2340
ICD10 33 Q75.0
MeSH 42 D003398
NCIt 47 C84655
UMLS 69 C0010278

Summaries for Craniosynostosis

NINDS : 51 Craniosynostosis is a birth defect of the skull characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. Normally the skull expands uniformly to accommodate the growth of the brain; premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in a misshapen skull but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked or caused by metabolic diseases (such as rickets )or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or impaired cognitive development, which are caused by constriction of the growing brain. Seizures and blindness may also occur.

MalaCards based summary : Craniosynostosis, also known as premature closure of cranial sutures, is related to muenke syndrome and crouzon syndrome with acanthosis nigricans. An important gene associated with Craniosynostosis is MSX2 (Msh Homeobox 2), and among its related pathways/superpathways are TGF-Beta Pathway and Developmental Biology. The drugs Tranexamic Acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include Bone and Bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

NIH Rare Diseases : 50 craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the joints between the bones of the skull (called the cranial sutures) before brain growth is complete. the first sign is an abnormally shaped skull; other features can include signs of increased intracranial pressure, developmental delays, intellectual disability, seizures, and blindness, caused by constriction of the growing brain. closure of a single suture is most common and does not prevent the brain from expanding to a normal volume. when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, leading to increased pressure and impaired development of the brain. craniosynostosis can be caused by genetic mutations, certain metabolic diseases (such as rickets or an overactive thyroid) or can be associated with other disorders such as microcephaly and hydrocephalus. treatment generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. last updated: 3/31/2011

Disease Ontology : 12 A synostosis that results_in premature fusion located in skull.

Wikipedia : 71 Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in... more...

Related Diseases for Craniosynostosis

Diseases in the Craniosynostosis family:

Craniosynostosis 6 Craniosynostosis, Type 2
Craniosynostosis, Type 1 Craniosynostosis 5
Craniosynostosis 3 Craniosynostosis 4
Craniosynostosis Autosomal Dominant Craniosynostosis, Nonsyndromic
Erf-Related Craniosynostosis Fgfr1-Related Craniosynostosis
Fgfr2-Related Craniosynostosis Msx2-Related Craniosynostosis
Tcf12-Related Craniosynostosis Twist1-Related Craniosynostosis
Zic1-Related Craniosynostosis

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

(show top 50) (show all 241)
id Related Disease Score Top Affiliating Genes
1 muenke syndrome 32.9 FGF8 FGFR2 FGFR3
2 crouzon syndrome with acanthosis nigricans 32.0 FGFR1 FGFR2 FGFR3
3 robinow-sorauf syndrome 31.9 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 TWIST1
4 apert syndrome 31.8 ERF FGF2 FGFR1 FGFR2 FGFR3 MSX2
5 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 31.3 FGFR2 FGFR3
6 osteoglophonic dysplasia 31.2 FGFR1 FGFR2 FGFR3
7 scaphocephaly, maxillary retrusion, and mental retardation 30.8 FGF10 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
8 isolated scaphocephaly 29.8 FGFR3 TCF12 TWIST1 ZIC1
9 craniosynostosis 4 12.1
10 craniosynostosis, type 2 12.1
11 craniosynostosis and dental anomalies 12.0
12 craniosynostosis, type 1 12.0
13 craniosynostosis 5 12.0
14 craniosynostosis 6 12.0
15 craniosynostosis 3 12.0
16 baller-gerold syndrome 11.9
17 holoprosencephaly, semilobar, with craniosynostosis 11.9
18 shprintzen-goldberg syndrome 11.8
19 craniosynostosis, philadelphia type 11.8
20 fgfr2-related craniosynostosis 11.8
21 tcf12-related craniosynostosis 11.8
22 herrmann opitz craniosynostosis 11.8
23 fgfr-related craniosynostosis syndromes 11.8
24 craniosynostosis, adelaide type 11.8
25 craniosynostosis-cataract syndrome 11.7
26 msx2-related craniosynostosis 11.7
27 twist1-related craniosynostosis 11.7
28 craniosynostosis, nonsyndromic 11.7
29 erf-related craniosynostosis 11.7
30 hunter-mcalpine craniosynostosis syndrome 11.7
31 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 11.7
32 craniosynostosis, calcification of basal ganglia, and facial dysmorphism 11.6
33 fgfr1-related craniosynostosis 11.6
34 craniosynostosis mental retardation clefting syndrome 11.6
35 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.6
36 craniosynostosis with fibular aplasia 11.6
37 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 11.6
38 zic1-related craniosynostosis 11.6
39 jackson-weiss syndrome 11.6
40 craniosynostosis cleft lip palate arthrogryposis 11.6
41 craniosynostosis contractures cleft 11.6
42 osteosclerosis-developmental delay-craniosynostosis syndrome 11.6
43 craniosynostosis exostoses nevus epibulbar dermoid 11.6
44 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.6
45 craniosynostosis fontaine type 11.6
46 craniosynostosis maroteaux fonfria type 11.6
47 craniosynostosis mental retardation heart defects 11.6
48 cutis gyratum acanthosis nigricans craniosynostosis 11.6
49 mental retardation anophthalmia craniosynostosis 11.6
50 congenital craniosynostosis maternal hyperthyroiditis 11.6

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to Craniosynostosis

Symptoms & Phenotypes for Craniosynostosis

GenomeRNAi Phenotypes related to Craniosynostosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.84 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.84 ERF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.84 NELL1 ERF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.84 NELL1 ERF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.84 TWIST1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.84 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.84 NELL1 TWIST1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.84 FGF8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.84 NELL1 ERF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.84 TWIST1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.84 FGF8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.84 NELL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.84 TWIST1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.84 FGF8 NELL1 ERF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.84 NELL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.84 FGF8
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.84 FGF8 NELL1 TWIST1 ERF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.84 NELL1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.84 FGF8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.84 NELL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.84 ERF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.84 TWIST1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.84 ERF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 FGF8

MGI Mouse Phenotypes related to Craniosynostosis:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 TCF12 TWIST1 ZIC1 ALX4 EFNB1 ERF
2 craniofacial MP:0005382 10.41 FGFR3 IHH MSX2 NELL1 NOG RECQL4
3 behavior/neurological MP:0005386 10.37 ALX4 FGF10 FGF2 FGF8 FGFR1 FGFR2
4 mortality/aging MP:0010768 10.36 ERF FGF10 FGF2 FGF8 FGFR1 FGFR2
5 cellular MP:0005384 10.35 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
6 digestive/alimentary MP:0005381 10.34 ALX4 EFNB1 FGF10 FGF8 FGFR1 FGFR2
7 embryo MP:0005380 10.33 ALX4 EFNB1 ERF FGF10 FGF8 FGFR1
8 cardiovascular system MP:0005385 10.28 ERF FGF10 FGF2 FGF8 FGFR1 FGFR2
9 endocrine/exocrine gland MP:0005379 10.24 EFNB1 FGF10 FGF8 FGFR1 FGFR2 IHH
10 hematopoietic system MP:0005397 10.24 EFNB1 ERF FGF10 FGF2 FGF8 FGFR1
11 nervous system MP:0003631 10.24 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
12 limbs/digits/tail MP:0005371 10.23 FGFR2 FGFR3 IHH MSX2 NOG RECQL4
13 hearing/vestibular/ear MP:0005377 10.16 FGFR1 FGFR2 FGFR3 MSX2 NOG EFNB1
14 muscle MP:0005369 10.14 ALX4 FGF10 FGF2 FGF8 FGFR1 FGFR2
15 integument MP:0010771 10.13 RECQL4 ALX4 EFNB1 FGF10 FGFR1 FGFR2
16 normal MP:0002873 9.97 FGFR2 FGFR3 MSX2 NOG ALX4 ERF
17 reproductive system MP:0005389 9.86 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
18 skeleton MP:0005390 9.86 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
19 respiratory system MP:0005388 9.81 ALX4 EFNB1 FGF10 FGF8 FGFR2 FGFR3
20 vision/eye MP:0005391 9.4 ALX4 EFNB1 FGF10 FGF2 FGF8 FGFR1

Drugs & Therapeutics for Craniosynostosis

Drugs for Craniosynostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
2 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
3 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
4 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
5
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
6
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
7
Etoposide Approved Phase 3 33419-42-0 36462
8
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
9
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
10
Melphalan Approved Phase 3 148-82-3 4053 460612
11
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
12
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
13
Mechlorethamine Approved Phase 3 51-75-2 4033
14
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
15
Lenograstim Approved Phase 3 135968-09-1
16
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
17
Doxil Approved June 1999 Phase 3 31703
18 Alkylating Agents Phase 3
19 topoisomerase I inhibitors Phase 3
20 Adjuvants, Immunologic Phase 3
21 Topoisomerase Inhibitors Phase 3
22 Dermatologic Agents Phase 3
23 Anti-Bacterial Agents Phase 3
24 Etoposide phosphate Phase 3
25 Immunosuppressive Agents Phase 3
26 Antibiotics, Antitubercular Phase 3
27 Antimitotic Agents Phase 3
28 Antirheumatic Agents Phase 3
29 Antineoplastic Agents, Alkylating Phase 3
30 Antineoplastic Agents, Phytogenic Phase 3
31 phenylalanine Nutraceutical Phase 3
32
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
33 Analgesics
34 Peripheral Nervous System Agents
35
Bilirubin 635-65-4 5280352
36 Calcium, Dietary
37 Calamus Nutraceutical

Interventional clinical trials:

(show all 28)
id Name Status NCT ID Phase
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4
3 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
4 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3
5 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3
6 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2
7 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1
8 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
9 Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care Completed NCT02287805
10 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
11 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321
12 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
13 Child and Infant Learning Project Completed NCT00077831
14 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
15 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
16 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
17 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
18 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
19 Osteogenic Profiling of Tissue From Children With Craniosynostosis Recruiting NCT00773643
20 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
21 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
22 MRI for Non-invasive Evaluation of Brain Stress Recruiting NCT01898650
23 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
24 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Enrolling by invitation NCT02775669
25 Bioimpedance and Hand-held Echocardiographay for Clinical Decision-making in Treatment of Cardio-renal Syndrome Type I Not yet recruiting NCT02959281
26 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087
27 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847
28 Hanger Helmet Study Withdrawn NCT02561728

Search NIH Clinical Center for Craniosynostosis

Cochrane evidence based reviews: craniosynostoses

Genetic Tests for Craniosynostosis

Genetic tests related to Craniosynostosis:

id Genetic test Affiliating Genes
1 Craniosynostosis Syndrome 29
2 Craniosynostosis 29

Anatomical Context for Craniosynostosis

MalaCards organs/tissues related to Craniosynostosis:

39
Bone, Brain, Thyroid, Testes, Heart, Skin, Prostate

The Foundational Model of Anatomy Ontology organs/tissues related to Craniosynostosis:

18
Skull
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Craniosynostosis:
id Tissue Anatomical CompartmentCell Relevance
1 Bone Rostral Sutures Fusing Suture Cells Affected by disease
2 Bone Rostral Sutures Presumptive Suture Cells Affected by disease
3 Bone Facial Sutures Presumptive Suture Cells Affected by disease
4 Bone Facial Sutures Suture Cells Affected by disease
5 Bone Rostral Sutures Suture Cells Affected by disease

Publications for Craniosynostosis

Articles related to Craniosynostosis:

(show top 50) (show all 821)
id Title Authors Year
1
The metopic-sagittal craniosynostosis-report of 35 operative cases. ( 28470385 )
2017
2
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. ( 28317252 )
2017
3
A proposal for a new classification of complications in craniosynostosis surgery. ( 28362186 )
2017
4
Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery. ( 28474983 )
2017
5
Review of Past Reports and Current Concepts of Surgical Management for Craniosynostosis. ( 28413181 )
2017
6
Promoting ossification of calvarial defects in craniosynostosis surgery by demineralized bone plate and bone dust in different age groups. ( 27751830 )
2017
7
Editorial. Sagittal craniosynostosis: what matters to parents? ( 28524789 )
2017
8
OCT-documented optic atrophy in nonsyndromic craniosynostosis and lacunar skull. ( 28087347 )
2017
9
Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences. ( 28060197 )
2017
10
BMP9 induces osteogenesis and adipogenesis in the immortalized human cranial suture progenitors from the patent sutures of craniosynostosis patients. ( 28470873 )
2017
11
Sagittal craniosynostosis: a utility outcomes study. ( 28524791 )
2017
12
Long-Term Outcomes of Pediatric Cranial Reconstruction Using Resorbable Plating Systems for the Treatment of Craniosynostosis. ( 27831975 )
2017
13
Frontal Sinus Volume and Frontal Bar Position Are Associated in Unicoronal Craniosynostosis. ( 28350679 )
2017
14
Anthropometric Outcome Measures in Patients With Metopic Craniosynostosis. ( 28468154 )
2017
15
A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis. ( 28468147 )
2017
16
Less is more: does the addition of barrel staves improve results in endoscopic strip craniectomy for sagittal craniosynostosis? ( 28409698 )
2017
17
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. ( 27774767 )
2017
18
Risk Factors for Delayed Referral to a Craniofacial Specialist for Treatment of Craniosynostosis. ( 28456388 )
2017
19
Correction of Sagittal Craniosynostosis Using Distraction Osteogenesis Based on Strategic Categorization. ( 28027243 )
2017
20
A new method for three-dimensional evaluation of the cranial shape and the automatic identification of craniosynostosis using 3D stereophotogrammetry. ( 28392059 )
2017
21
Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality. ( 28468151 )
2017
22
Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A. ( 28396140 )
2017
23
Early Complications and Associated Perioperative Factors in Nonsyndromic Craniosynostosis. ( 28358766 )
2017
24
Biological response of human suture mesenchymal cells to Titania nanotube-based implants for advanced craniosynostosis therapy. ( 27883932 )
2017
25
Use of cutting guides during craniosynostosis sequelae surgery: A comparative study between computer-assisted planning and post-operative results. ( 28434829 )
2017
26
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
27
Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis. ( 28320694 )
2017
28
Craniosynostosis and Guanine Nucleotide-binding Protein Alpha Stimulating Mutation: Risk of Bleeding Diathesis and Circulatory Collapse in Patients Undergoing Cranial Vault Reconstruction. ( 28358762 )
2017
29
Discussion: Sleep Architecture Linked to Airway Obstruction and Intracranial Hypertension in Children with Syndromic Craniosynostosis. ( 27879597 )
2016
30
Single incision endoscope-assisted surgery for sagittal craniosynostosis. ( 27730296 )
2016
31
Increase of prevalence of craniosynostosis. ( 27499511 )
2016
32
Telemetric Intracranial Pressure Monitoring in Syndromic Craniosynostosis. ( 27152573 )
2016
33
Outcomes of endoscopic suturectomy with postoperative helmet therapy in bilateral coronal craniosynostosis. ( 27203136 )
2016
34
Lumbar puncture pressures during childhood in 262 children with craniosynostosis. ( 27178233 )
2016
35
Three-Dimensional Handheld Scanning to Quantify Head-Shape Changes in Spring-Assisted Surgery for Sagittal Craniosynostosis. ( 28005766 )
2016
36
Assessing Risk Factors for Hospital-Based, Acute Care Within Thirty Days of Craniosynostosis Surgery Using the Healthcare Cost and Utilization Project. ( 27526238 )
2016
37
Hypophosphatemic rickets and craniosynostosis: a multicenter case series. ( 26824597 )
2016
38
Implementation of a Tranexamic Acid Protocol to Reduce Blood Loss During Cranial Vault Remodeling for Craniosynostosis. ( 27557459 )
2016
39
Abnormal transcranial Doppler cerebral blood flow velocity and blood pressure profiles in children with syndromic craniosynostosis and papilledema. ( 26857754 )
2016
40
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. ( 27568649 )
2016
41
Parental perception of treatment and medical care in children with craniosynostosis. ( 27117394 )
2016
42
Distraction osteogenesis for surgical treatment of craniosynostosis: a systematic review. ( 27127836 )
2016
43
Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography. ( 27622416 )
2016
44
Multivariable predictors of substantial blood loss in children undergoing craniosynostosis repair: implications for risk stratification. ( 27510707 )
2016
45
Empowerment of Parents of Children With Craniosynostosis by Objective Scoring of Patient Information Websites. ( 27192636 )
2016
46
Pityriasis rosea in pregnancy: report of a spousal occurrence and craniosynostosis in the healthy newborn. ( 27648382 )
2016
47
Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis. ( 26659664 )
2016
48
Discussion: Age at the Time of Surgery and Maintenance of Head Size in Nonsyndromic Sagittal Craniosynostosis. ( 27119929 )
2016
49
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis. ( 27158814 )
2016
50
Surgical guide for the remodelling of the orbito-naso-frontal bandeau in craniosynostosis surgery. ( 27618720 )
2016

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
2 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
3 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931615 GRCh37 Chromosome 4, 1806153: 1806153
4 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
5 ZNF462 NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter) single nucleotide variant Pathogenic rs1060499549 GRCh37 Chromosome 9, 109689980: 109689980
6 ZNF462 NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs) deletion Pathogenic rs1060499551 GRCh37 Chromosome 9, 109690456: 109690456
7 ZNF462 NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs) indel Pathogenic rs1060499550 GRCh37 Chromosome 9, 109689172: 109689173

Copy number variations for Craniosynostosis from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97908 16 14700000 16700000 Duplication or delet ion Craniosynostosis
2 112785 17 41062469 41719833 Deletion Craniosynostosis
3 142095 2 219500000 222200000 Duplication IHH Craniosynostosis

Expression for Craniosynostosis

Search GEO for disease gene expression data for Craniosynostosis.

Pathways for Craniosynostosis

Pathways related to Craniosynostosis according to GeneCards Suite gene sharing:

(show all 39)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.46 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
3
Show member pathways
13.37 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.33 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.27 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.08 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.03 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.01 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.97 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.82 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.72 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.71 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
13 12.69 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.67 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
15 12.64 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16 12.6 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
17 12.55 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.53 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.42 FGF2 FGFR2 NOG TCF12
20
Show member pathways
12.37 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.29 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.28 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
23 12.26 FGF2 FGFR1 IHH TWIST1
24
Show member pathways
12.19 FGF2 FGFR1 FGFR2 FGFR3
25 12.07 FGF2 FGFR1 FGFR2 FGFR3
26 12.04 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
27
Show member pathways
12.02 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.81 FGF2 FGF8 FGFR1
29 11.75 FGF10 FGF2 FGF8 MSX2 NOG
30 11.68 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
31 11.66 FGF2 FGFR1 FGFR3 IHH
32 11.66 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
33 11.65 FGFR1 FGFR2 FGFR3
34
Show member pathways
11.63 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
35
Show member pathways
11.58 FGF2 FGF8 FGFR3
36 11.46 FGFR1 FGFR2 FGFR3
37 11.46 FGF10 FGF2 FGF8 FGFR1 FGFR3
38 11.44 FGF10 FGF2 FGF8 NOG
39 11.23 FGF2 FGF8 FGFR1 FGFR2 FGFR3 MSX2

GO Terms for Craniosynostosis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2 nucleus GO:0005634 9.47 ALX4 EFNB1 ERF FGF10 FGF2 FGFR1

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

(show top 50) (show all 90)
id Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.99 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2 osteoblast differentiation GO:0001649 9.98 IHH MSX2 NOG TWIST1
3 lung development GO:0030324 9.96 FGF10 FGF8 FGFR1 FGFR2
4 wound healing GO:0042060 9.95 FGF10 FGF2 FGFR2 MSX2 NOG
5 animal organ morphogenesis GO:0009887 9.94 FGF10 FGF2 FGFR2
6 muscle organ development GO:0007517 9.94 ALX4 TCF12 TWIST1
7 positive regulation of MAPK cascade GO:0043410 9.94 FGF10 FGFR1 FGFR2 FGFR3
8 BMP signaling pathway GO:0030509 9.93 FGF8 MSX2 NOG
9 somatic stem cell population maintenance GO:0035019 9.92 FGF10 FGF2 NOG
10 negative regulation of cell differentiation GO:0045596 9.92 FGF10 NOG TWIST1
11 embryonic limb morphogenesis GO:0030326 9.91 FGFR1 MSX2 TWIST1
12 phosphatidylinositol-mediated signaling GO:0048015 9.91 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
13 bone development GO:0060348 9.9 FGF8 FGFR2 TWIST1
14 pattern specification process GO:0007389 9.9 ALX4 NOG ZIC1
15 outflow tract morphogenesis GO:0003151 9.9 FGF8 MSX2 NOG
16 positive regulation of cell division GO:0051781 9.9 FGF2 FGF8 FGFR2
17 ureteric bud development GO:0001657 9.9 FGFR1 FGFR2 NOG
18 skeletal system morphogenesis GO:0048705 9.9 ALX4 FGFR1 FGFR2
19 inner ear morphogenesis GO:0042472 9.89 FGF10 FGF8 FGFR1 FGFR2 ZIC1
20 positive chemotaxis GO:0050918 9.88 FGF10 FGF2 FGF8
21 positive regulation of epithelial cell proliferation GO:0050679 9.88 FGF10 FGFR2 IHH NOG TWIST1
22 digestive tract development GO:0048565 9.87 ALX4 FGF10 FGFR2
23 embryonic forelimb morphogenesis GO:0035115 9.87 ALX4 MSX2 TWIST1
24 bone morphogenesis GO:0060349 9.87 FGFR2 FGFR3 MSX2
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.86 FGFR1 FGFR2 IHH
26 odontogenesis GO:0042476 9.86 FGF8 FGFR2 MSX2 TWIST1
27 embryonic digit morphogenesis GO:0042733 9.85 ALX4 IHH MSX2 NOG TWIST1
28 limb morphogenesis GO:0035108 9.84 ALX4 FGF10 FGF8
29 embryonic hindlimb morphogenesis GO:0035116 9.84 ALX4 FGF8 MSX2 TWIST1
30 outflow tract septum morphogenesis GO:0003148 9.83 FGF8 FGFR2 MSX2
31 positive regulation of cardiac muscle cell proliferation GO:0060045 9.83 FGF2 FGFR1 FGFR2
32 embryonic pattern specification GO:0009880 9.83 EFNB1 FGF10 FGFR2 IHH
33 regulation of smoothened signaling pathway GO:0008589 9.82 FGF10 FGFR2 ZIC1
34 lung morphogenesis GO:0060425 9.82 FGF10 FGF8 NOG
35 embryonic digestive tract morphogenesis GO:0048557 9.81 FGF10 FGFR2 IHH
36 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
37 organ induction GO:0001759 9.79 FGF10 FGF8 FGFR1
38 mesenchymal cell differentiation GO:0048762 9.78 FGFR1 FGFR2 NOG
39 signal transduction involved in regulation of gene expression GO:0023019 9.77 FGF8 MSX2
40 middle ear morphogenesis GO:0042474 9.77 FGFR1 NOG
41 positive regulation of phospholipase activity GO:0010518 9.77 FGFR1 FGFR2 FGFR3
42 endocardial cushion morphogenesis GO:0003203 9.76 NOG TWIST1
43 somite development GO:0061053 9.76 IHH NOG
44 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.76 FGF8 MSX2
45 mesonephros development GO:0001823 9.76 FGF10 FGF8
46 generation of neurons GO:0048699 9.76 FGF8 FGFR1
47 organ growth GO:0035265 9.76 FGF10 FGFR2
48 chondrocyte proliferation GO:0035988 9.76 FGFR3 IHH
49 endochondral bone growth GO:0003416 9.76 FGFR2 FGFR3 MSX2
50 salivary gland morphogenesis GO:0007435 9.75 FGF10 FGFR1

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.78 FGF10 FGF2 FGFR1 FGFR2
2 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 FGFR1 FGFR2 FGFR3
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
5 chemoattractant activity GO:0042056 9.61 FGF10 FGF2 FGF8
6 fibroblast growth factor receptor binding GO:0005104 9.58 FGF10 FGF2 FGF8
7 fibroblast growth factor binding GO:0017134 9.54 FGFR1 FGFR2 FGFR3
8 HMG box domain binding GO:0071837 9.51 ALX4 TCF12
9 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
10 receptor-receptor interaction GO:0090722 9.46 FGF2 FGFR1
11 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
12 1-phosphatidylinositol-3-kinase activity GO:0016303 9.1 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3

Sources for Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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