MCID: CRN037
MIFTS: 68

Craniosynostosis

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

Aliases & Classifications for Craniosynostosis

MalaCards integrated aliases for Craniosynostosis:

Name: Craniosynostosis 37 12 72 49 50 36 28 51 14 69
Premature Closure of Cranial Sutures 12
Craniosynostosis Syndrome 28
Craniosynostoses 41
Craniostenosis 49
Cso 49

Classifications:



External Ids:

Disease Ontology 12 DOID:2340
ICD10 32 Q75.0
MeSH 41 D003398
NCIt 46 C84655
KEGG 36 H00458
UMLS 69 C0010278

Summaries for Craniosynostosis

NINDS : 50 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 craniosynostosis 1 and jackson-weiss syndrome. An important gene associated with Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include Bone and Bone, and related phenotypes are growth/size/body region and craniofacial

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

NIH Rare Diseases : 49 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

Wikipedia : 72 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 1 Craniosynostosis 4
Craniosynostosis 2 Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis 3 Craniosynostosis 5
Craniosynostosis 6 Craniosynostosis 7
Craniosynostosis Autosomal Dominant

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

(show top 50) (show all 295)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 34.1 ERF TWIST1
2 jackson-weiss syndrome 33.4 FGFR1 FGFR2 FGFR3
3 beare-stevenson cutis gyrata syndrome 32.8 FGFR2 FGFR3
4 saethre-chotzen syndrome 32.4 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 TWIST1
5 chromosome 2q35 duplication syndrome 32.3 FGFR2 FGFR3 NOG
6 pfeiffer syndrome 32.2 FGF10 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
7 crouzon syndrome 32.2 ERF FGF2 FGFR1 FGFR2 FGFR3 MSX2
8 apert syndrome 32.1 FGF10 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
9 osteoglophonic dysplasia 32.1 FGFR1 FGFR2 FGFR3
10 muenke syndrome 31.9 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
11 isolated plagiocephaly 31.8 FGFR3 TCF12 TWIST1
12 lacrimoauriculodentodigital syndrome 31.3 FGF10 FGF8 FGFR1 FGFR2 FGFR3
13 plagiocephaly 30.9 FGFR1 FGFR2 FGFR3 TWIST1
14 isolated brachycephaly 30.7 FGFR3 TCF12 TWIST1
15 isolated scaphocephaly 30.6 ALX4 ERF TWIST1
16 achondroplasia 30.6 FGFR1 FGFR2 FGFR3
17 hypochondroplasia 30.1 FGFR1 FGFR2 FGFR3
18 parietal foramina 30.1 ALX4 MSX2 RECQL4 TWIST1
19 cleft palate, isolated 29.9 FGFR1 FGFR2 TGFBR2
20 hypertelorism 29.8 EFNB1 FGFR2 TWIST1
21 hypospadias 29.6 FGF10 FGF8 FGFR2
22 dysostosis 29.4 ALX4 FGFR2 FGFR3
23 synostosis 29.4 EFNB1 FGFR1 FGFR2 FGFR3 MSX2 NELL1
24 shprintzen-goldberg craniosynostosis syndrome 12.3
25 craniosynostosis 4 12.2
26 craniosynostosis 2 12.2
27 holoprosencephaly, semilobar, with craniosynostosis 12.1
28 craniosynostosis 5 12.1
29 craniosynostosis 7 12.1
30 craniosynostosis and dental anomalies 12.1
31 craniosynostosis 6 12.1
32 craniosynostosis 3 12.1
33 baller-gerold syndrome 12.1
34 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.0
35 craniosynostosis, adelaide type 11.9
36 herrmann opitz craniosynostosis 11.9
37 craniosynostosis-cataract syndrome 11.8
38 craniosynostosis philadelphia type 11.8
39 fgfr-related craniosynostosis syndromes 11.8
40 craniosynostosis with ectopia lentis 11.8
41 craniosynostosis-mental retardation-clefting syndrome 11.8
42 hunter-mcalpine craniosynostosis syndrome 11.8
43 craniosynostosis with fibular aplasia 11.7
44 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.7
45 craniosynostosis, calcification of basal ganglia, and facial dysmorphism 11.7
46 glass-chapman-hockley syndrome 11.7
47 craniosynostosis with anomalies of the cranial base and digits 11.7
48 craniosynostosis-mental retardation syndrome of lin and gettig 11.7
49 craniosynostosis syndrome, autosomal recessive 11.7
50 craniosynostosis with ocular abnormalities and hallucal defects 11.7

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to Craniosynostosis

Symptoms & Phenotypes for Craniosynostosis

MGI Mouse Phenotypes related to Craniosynostosis:

43 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 TWIST1 TGFBR2 TGFBR1 FGFR1 FGF8 FGFR2
2 craniofacial MP:0005382 10.42 TGFBR2 TWIST1 FGF8 FGFR1 MSX2 FGFR3
3 behavior/neurological MP:0005386 10.41 TWIST1 TGFBR2 FGF2 FGFR1 FGF10 FGF8
4 cellular MP:0005384 10.4 TGFBR1 TWIST1 TGFBR2 FGF2 FGFR1 FGF10
5 digestive/alimentary MP:0005381 10.38 TGFBR2 TWIST1 FGF8 FGFR1 MSX2 FGFR3
6 cardiovascular system MP:0005385 10.37 TWIST1 TGFBR2 TGFBR1 FGFR1 FGF8 FGF2
7 embryo MP:0005380 10.37 TWIST1 TGFBR2 FGFR1 FGF8 FGFR2 MSX2
8 mortality/aging MP:0010768 10.36 TGFBR2 TWIST1 FGF8 FGF2 FGFR1 FGFR2
9 hematopoietic system MP:0005397 10.32 TGFBR2 TGFBR1 FGFR1 FGF10 FGF8 FGF2
10 endocrine/exocrine gland MP:0005379 10.29 TGFBR1 TGFBR2 FGFR1 FGF10 FGF8 FGFR2
11 homeostasis/metabolism MP:0005376 10.27 TGFBR1 TGFBR2 FGF2 FGF10 FGF8 FGFR3
12 immune system MP:0005387 10.22 TGFBR1 TGFBR2 FGF10 FGF8 FGFR3 FGFR2
13 nervous system MP:0003631 10.2 TWIST1 TGFBR2 TGFBR1 FGFR1 FGF8 FGF2
14 hearing/vestibular/ear MP:0005377 10.18 FGFR1 FGF8 FGF2 FGFR2 MSX2 FGFR3
15 limbs/digits/tail MP:0005371 10.17 TWIST1 FGF8 FGFR1 FGFR2 MSX2 FGFR3
16 integument MP:0010771 10.16 TGFBR1 FGFR1 FGF10 FGFR3 FGFR2 EFNB1
17 muscle MP:0005369 10.15 TWIST1 TGFBR2 FGFR1 FGF8 FGF2 FGFR2
18 normal MP:0002873 10 TGFBR2 TGFBR1 FGFR1 FGF8 FGFR3 FGFR2
19 skeleton MP:0005390 9.86 TGFBR2 TWIST1 FGF8 FGF2 FGFR1 MSX2
20 respiratory system MP:0005388 9.85 TGFBR2 TGFBR1 FGF8 FGFR2 FGFR3 EFNB1
21 vision/eye MP:0005391 9.4 TGFBR2 FGFR1 FGF8 FGF2 FGFR2 MSX2

Drugs & Therapeutics for Craniosynostosis

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
4 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
5 Skullcap Nutraceutical Phase 4,Phase 1
6
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
7
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
10
Etoposide Approved Phase 3 33419-42-0 36462
11
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
12
Lenograstim Approved, Investigational Phase 3 135968-09-1
13
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
14
Melphalan Approved Phase 3 148-82-3 460612 4053
15
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
16
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
17
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
18
Doxil Approved June 1999 Phase 3 31703
19 Adjuvants, Immunologic Phase 3
20 Alkylating Agents Phase 3
21 Anti-Bacterial Agents Phase 3
22 Antibiotics, Antitubercular Phase 3
23 Antimitotic Agents Phase 3
24 Antineoplastic Agents, Phytogenic Phase 3
25 Antirheumatic Agents Phase 3
26 Dermatologic Agents Phase 3
27 Etoposide phosphate Phase 3
28 Immunosuppressive Agents Phase 3
29 topoisomerase I inhibitors Phase 3
30 Topoisomerase Inhibitors Phase 3
31 phenylalanine Nutraceutical Phase 3
32
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
33
Iron Approved 7439-89-6 23925
34 Analgesics
35 Peripheral Nervous System Agents
36
Bilirubin 635-65-4 5280352
37 Epoetin alfa 113427-24-0
38 Ferrous fumarate
39 Hematinics
40 Micronutrients
41 Trace Elements
42 Calcium, Dietary
43 Calamus Nutraceutical

Interventional clinical trials:

(show all 31)

# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Active, not recruiting NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
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 Tranexamic Acid;Tranexamic Acid;Saline Placebo
5 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
6 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
7 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
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 Tranexamic Acid;normal saline
12 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
13 Child and Infant Learning Project Completed NCT00077831
14 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
15 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
16 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
17 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
18 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
19 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
20 Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child Recruiting NCT03231085 Ferrous fumarate
21 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
22 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
23 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
24 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
25 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
26 Osteogenic Profiling of Tissue From Children With Craniosynostosis Active, not recruiting NCT00773643
27 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Enrolling by invitation NCT02775669
28 Bioimpedance and Hand-held Echocardiographay for Clinical Decision-making in Treatment of Cardio-renal Syndrome Type I Not yet recruiting NCT02959281
29 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087
30 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847
31 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:

# Genetic test Affiliating Genes
1 Craniosynostosis Syndrome 28
2 Craniosynostosis 28

Anatomical Context for Craniosynostosis

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

18
Skull

MalaCards organs/tissues related to Craniosynostosis:

38
Bone, Brain, Thyroid, Skin, Testes, Prostate, Heart
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Craniosynostosis:
# 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 874)
# Title Authors Year
1
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family. ( 29150894 )
2018
2
Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin. ( 29437519 )
2018
3
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. ( 29392564 )
2018
4
Craniosynostosis Surgery and the Impact of Tranexamic Acid Dosing. ( 29194278 )
2018
5
Use of neuroimaging measurements of optic nerve sheath diameter to assess intracranial pressure in craniosynostosis. ( 29380112 )
2018
6
Choanal Atresia and Craniosynostosis: Development and Disease. ( 29280877 )
2018
7
Intracranial Migration of Hardware 16 Years Following Craniosynostosis Repair. ( 29391921 )
2018
8
3D morphological change of skull base and fronto-temporal soft-tissue in the patients with unicoronal craniosynostosis after fronto-orbital advancement. ( 29335798 )
2018
9
The Effect of Midface Advancement Surgery on Obstructive Sleep Apnoea in Syndromic Craniosynostosis. ( 29286994 )
2018
10
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. ( 29037998 )
2018
11
Surgical Outcome After Less "Rigid" Fixation in Open Cranial Vault Remodeling for Craniosynostosis. ( 29438206 )
2018
12
A Survey of Orthodontic Treatment in Team Care for Patients With Syndromic Craniosynostosis in Japan. ( 29351022 )
2018
13
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
14
Retrospective study on midfacial advancement in syndromic craniosynostosis: case series. ( 29345318 )
2018
15
The Temporal Region in Unilateral Coronal Craniosynostosis: Fronto-orbital Advancement Versus Endoscopy-Assisted Strip Craniectomy. ( 29437517 )
2018
16
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. ( 29351036 )
2018
17
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. ( 29215649 )
2017
18
Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature. ( 28217872 )
2017
19
Frontal Sinus Volume and Frontal Bar Position Are Associated in Unicoronal Craniosynostosis. ( 28350679 )
2017
20
Early Complications and Associated Perioperative Factors in Nonsyndromic Craniosynostosis. ( 28358766 )
2017
21
Anthropometric Outcome Measures in Patients With Metopic Craniosynostosis. ( 28468154 )
2017
22
Changes in delta ADC reflect intracranial pressure changes in craniosynostosis. ( 28894592 )
2017
23
Biological response of human suture mesenchymal cells to Titania nanotube-based implants for advanced craniosynostosis therapy. ( 27883932 )
2017
24
Identification of stiffness-induced signalling mechanisms in cells from patent and fused sutures associated with craniosynostosis. ( 28904366 )
2017
25
Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis. ( 28320694 )
2017
26
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. ( 28849010 )
2017
27
Less is more: does the addition of barrel staves improve results in endoscopic strip craniectomy for sagittal craniosynostosis? ( 28409698 )
2017
28
Long-Term Outcomes of Pediatric Cranial Reconstruction Using Resorbable Plating Systems for the Treatment of Craniosynostosis. ( 27831975 )
2017
29
Promoting ossification of calvarial defects in craniosynostosis surgery by demineralized bone plate and bone dust in different age groups. ( 27751830 )
2017
30
A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis. ( 28468147 )
2017
31
Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery. ( 28474983 )
2017
32
Determining the fate of cranial sutures after surgical correction ofA non-syndromic craniosynostosis. ( 28939204 )
2017
33
Craniosynostosis and hypophosphatasia. ( 29405940 )
2017
34
Surgical Treatment of Nonsyndromic Craniosynostosis. ( 28885444 )
2017
35
The metopic-sagittal craniosynostosis-report of 35 operative cases. ( 28470385 )
2017
36
Frontal Hyperostosis in the Patients of Craniosynostosis After Cranial Distraction Osteogenesis. ( 28938316 )
2017
37
The Unnecessity of Positron Emission Tomography Computed Tomography in the Etiologic Evaluation of Neurodevelopmental Delay in Craniosynostosis Patients. ( 28913298 )
2017
38
A Craniometric Analysis of Cranial Base and Cranial Vault Differences in Patients With Metopic Craniosynostosis. ( 28922245 )
2017
39
Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report. ( 29245229 )
2017
40
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. ( 29100093 )
2017
41
Sagittal craniosynostosis: a utility outcomes study. ( 28524791 )
2017
42
OCT-documented optic atrophy in nonsyndromic craniosynostosis and lacunar skull. ( 28087347 )
2017
43
Deregulated PDGFRI+ signaling alters coronal suture morphogenesis and leads to craniosynostosis through endochondral ossification. ( 28947535 )
2017
44
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature. ( 28926972 )
2017
45
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. ( 28262468 )
2017
46
A proposal for a new classification of complications in craniosynostosis surgery. ( 28362186 )
2017
47
Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality. ( 28468151 )
2017
48
Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system. ( 29236889 )
2017
49
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
50
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. ( 27774767 )
2017

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6 (show all 13)
# 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.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
4 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931615 GRCh37 Chromosome 4, 1806153: 1806153
5 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
6 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
7 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
8 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78311289 GRCh37 Chromosome 4, 1807889: 1807889
9 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh37 Chromosome 4, 1808988: 1808988
10 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
11 ZNF462 NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter) single nucleotide variant Pathogenic rs1060499549 GRCh37 Chromosome 9, 109689980: 109689980
12 ZNF462 NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs) deletion Pathogenic rs1060499551 GRCh37 Chromosome 9, 109690456: 109690456
13 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
# 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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.56 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.55 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.51 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
5
Show member pathways
13.43 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.38 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.33 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.2 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.12 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
10
Show member pathways
13.08 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
11
Show member pathways
13.07 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
12
Show member pathways
13.06 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.99 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.88 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.76 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.75 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.75 FGF10 FGF2 FGF8 FGFR1 FGFR2 TGFBR1
18
Show member pathways
12.72 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
19 12.65 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
20 12.65 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.6 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.54 FGF8 FGFR1 NOG SMAD6 ZNF462
23
Show member pathways
12.49 FGF2 FGFR2 NOG TCF12 TGFBR1 TGFBR2
24
Show member pathways
12.47 FGFR1 FGFR2 FGFR3 TGFBR1 TGFBR2
25
Show member pathways
12.47 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
26 12.42 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
27 12.39 FGFR2 FGFR3 TGFBR1 TGFBR2
28
Show member pathways
12.39 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
29
Show member pathways
12.38 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
30
Show member pathways
12.24 FGF2 FGFR1 FGFR2 FGFR3
31
Show member pathways
12.22 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
32 12.15 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
33 12.12 FGF2 FGFR1 FGFR2 FGFR3
34
Show member pathways
11.93 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
35 11.86 FGF10 FGF2 FGF8 MSX2 NOG
36 11.85 NOG SMAD6 TGFBR1 TGFBR2
37
Show member pathways
11.84 FGF2 FGF8 FGFR1
38 11.73 FGFR1 TGFBR1 TGFBR2
39 11.68 FGFR1 FGFR2 FGFR3
40 11.68 FGF2 FGFR1 FGFR3
41 11.66 NOG SMAD6 TGFBR1 TGFBR2
42 11.66 FGF10 FGF2 FGF8 FGFR1 FGFR3
43
Show member pathways
11.63 FGF2 FGF8 FGFR3
44 11.55 FGF2 FGFR1 TGFBR1 TGFBR2
45 11.53 FGF10 FGF2 FGF8 NOG
46 11.51 FGFR1 FGFR2 FGFR3
47 11.43 FGFR1 FGFR2 FGFR3 TGFBR1 TGFBR2
48 11.42 FGF2 FGFR1 FGFR2 FGFR3
49 11.38 EFNB1 FGF2 FGFR1 FGFR2 FGFR3 TGFBR1
50 11.18 FGF2 FGF8 FGFR1 FGFR2 FGFR3 MSX2

GO Terms for Craniosynostosis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 ALX4 EFNB1 ERF FGF10 FGF2 FGFR1
2 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

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

(show top 50) (show all 100)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.98 FGF10 FGFR1 FGFR2 FGFR3
2 BMP signaling pathway GO:0030509 9.97 FGF8 MSX2 NOG SMAD6
3 palate development GO:0060021 9.97 ALX4 TGFBR1 TGFBR2 TWIST1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.97 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
5 positive regulation of epithelial cell proliferation GO:0050679 9.96 FGF10 FGFR2 NOG TWIST1
6 osteoblast differentiation GO:0001649 9.95 MSX2 NOG TWIST1
7 muscle organ development GO:0007517 9.95 ALX4 TCF12 TWIST1
8 anterior/posterior pattern specification GO:0009952 9.95 ALX4 MSX2 TGFBR1
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.95 SMAD6 TGFBR1 TGFBR2
10 inner ear morphogenesis GO:0042472 9.95 FGF10 FGF8 FGFR1 FGFR2
11 embryonic digit morphogenesis GO:0042733 9.95 ALX4 MSX2 NOG TWIST1
12 lung development GO:0030324 9.95 FGF10 FGF8 FGFR1 FGFR2 TGFBR2
13 post-embryonic development GO:0009791 9.94 ALX4 FGFR2 TGFBR1
14 cartilage development GO:0051216 9.94 MSX2 NOG TGFBR2
15 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.93 SMAD6 TGFBR1 TGFBR2
16 negative regulation of cell differentiation GO:0045596 9.93 FGF10 NOG TWIST1
17 somatic stem cell population maintenance GO:0035019 9.93 FGF10 FGF2 NOG
18 outflow tract morphogenesis GO:0003151 9.93 FGF8 MSX2 NOG TGFBR2
19 bone development GO:0060348 9.92 FGF8 FGFR2 TWIST1
20 embryonic limb morphogenesis GO:0030326 9.91 FGFR1 MSX2 TWIST1
21 positive regulation of cell division GO:0051781 9.91 FGF2 FGF8 FGFR2
22 ureteric bud development GO:0001657 9.91 FGFR1 FGFR2 NOG SMAD6
23 skeletal system morphogenesis GO:0048705 9.91 ALX4 FGFR1 FGFR2 TGFBR1
24 phosphatidylinositol phosphorylation GO:0046854 9.91 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
25 positive regulation of epithelial to mesenchymal transition GO:0010718 9.9 TGFBR1 TGFBR2 TWIST1
26 positive chemotaxis GO:0050918 9.89 FGF10 FGF2 FGF8
27 epithelial to mesenchymal transition GO:0001837 9.89 FGFR2 NOG TGFBR1
28 positive regulation of cardiac muscle cell proliferation GO:0060045 9.89 FGF2 FGFR1 FGFR2
29 ventricular septum morphogenesis GO:0060412 9.89 NOG TGFBR1 TGFBR2
30 embryonic forelimb morphogenesis GO:0035115 9.88 ALX4 MSX2 TWIST1
31 bone morphogenesis GO:0060349 9.88 FGFR2 FGFR3 MSX2
32 positive regulation of mesenchymal cell proliferation GO:0002053 9.88 FGFR1 FGFR2 TGFBR2
33 embryonic cranial skeleton morphogenesis GO:0048701 9.88 FGFR2 TGFBR1 TGFBR2 TWIST1
34 embryonic pattern specification GO:0009880 9.87 EFNB1 FGF10 FGFR2
35 digestive tract development GO:0048565 9.87 ALX4 FGF10 FGFR2 TGFBR2
36 odontogenesis GO:0042476 9.86 FGF8 FGFR2 MSX2 TWIST1
37 limb morphogenesis GO:0035108 9.85 ALX4 FGF10 FGF8
38 fibroblast growth factor receptor signaling pathway GO:0008543 9.85 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
39 embryonic hindlimb morphogenesis GO:0035116 9.83 ALX4 FGF8 MSX2 TWIST1
40 organ induction GO:0001759 9.81 FGF10 FGF8 FGFR1
41 membranous septum morphogenesis GO:0003149 9.8 FGFR2 NOG TGFBR2
42 positive regulation of protein kinase B signaling GO:0051897 9.8 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
43 endocardial cushion morphogenesis GO:0003203 9.78 NOG TWIST1
44 lung morphogenesis GO:0060425 9.78 FGF10 FGF8 NOG TGFBR2
45 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.77 FGF8 MSX2
46 pathway-restricted SMAD protein phosphorylation GO:0060389 9.77 TGFBR1 TGFBR2
47 mesonephros development GO:0001823 9.77 FGF10 FGF8
48 generation of neurons GO:0048699 9.77 FGF8 FGFR1
49 organ growth GO:0035265 9.77 FGF10 FGFR2
50 positive regulation of phospholipase activity GO:0010518 9.77 FGFR1 FGFR2 FGFR3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.97 FGFR1 FGFR2 FGFR3 TGFBR1 TGFBR2
2 heparin binding GO:0008201 9.78 FGF10 FGF2 FGFR1 FGFR2
3 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.7 FGFR1 FGFR2 FGFR3
5 SMAD binding GO:0046332 9.67 TCF12 TGFBR1 TGFBR2
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7 chemoattractant activity GO:0042056 9.61 FGF10 FGF2 FGF8
8 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.58 TGFBR1 TGFBR2
9 fibroblast growth factor receptor binding GO:0005104 9.58 FGF10 FGF2 FGF8
10 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.56 TGFBR1 TGFBR2
11 I-SMAD binding GO:0070411 9.55 SMAD6 TGFBR1
12 type I transforming growth factor beta receptor binding GO:0034713 9.54 SMAD6 TGFBR2
13 fibroblast growth factor binding GO:0017134 9.54 FGFR1 FGFR2 FGFR3
14 transforming growth factor beta-activated receptor activity GO:0005024 9.51 TGFBR1 TGFBR2
15 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
16 receptor-receptor interaction GO:0090722 9.46 FGF2 FGFR1
17 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
18 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....