MCID: CRZ001
MIFTS: 70

Crouzon Syndrome

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

Aliases & Classifications for Crouzon Syndrome

MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome 54 38 12 72 50 24 25 71 29 13 52 14
Crouzon Craniofacial Dysostosis 50 24 25 56 71
Craniofacial Dysostosis 12 25 29 42
Craniofacial Dysostosis Type 1 50 69
Craniofacial Dysostosis Type I 24 71
Crouzon's Disease 12 25
Crouzon Disease 50 56
Cfd1 50 71
Craniofacial Dysostosis, Type 1; Cfd1 25
Craniofacial Dysostosis Syndrome 25
Craniofacial Dysarthrosis 25
Crouzons Disease 25
Cs 71

Characteristics:

Orphanet epidemiological data:

56
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
associated with increased paternal age


HPO:

32
crouzon syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Crouzon Syndrome

NIH Rare Diseases : 50 crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis). this prevents normal growth of the skull, which can affect the shape of the head and face. signs and symptoms of crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw. other features may include dental problems, hearing loss, and/or cleft lip and palate. the severity of signs and symptoms can vary among affected people, even within a family. intelligence is usually normal, but intellectual disability may be present. crouzon syndrome is caused by changes (mutations) in the fgfr2 gene and is inherited in an autosomal dominant manner. treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development. last updated: 6/8/2016

MalaCards based summary : Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to crouzon syndrome with acanthosis nigricans and apert syndrome, and has symptoms including optic atrophy, strabismus and headache. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are GPCR Pathway and Activation of cAMP-Dependent PKA. The drugs Liver Extracts and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and eye, and related phenotypes are behavior/neurological and cellular

UniProtKB/Swiss-Prot : 71 Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

Genetics Home Reference : 25 Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

OMIM : 54
Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). (123500)

Disease Ontology : 12 A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.

Wikipedia : 72 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more...

Related Diseases for Crouzon Syndrome

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

(show top 50) (show all 132)
id Related Disease Score Top Affiliating Genes
1 crouzon syndrome with acanthosis nigricans 33.5 FGF13 FGFR2 FGFR3
2 apert syndrome 30.8 FGFR2 FGFR3
3 jackson-weiss syndrome 29.9 FGFR1 FGFR2 FGFR3
4 craniofacial dysostosis with diaphyseal hyperplasia 12.2
5 craniofacial dysostosis arthrogryposis progeroid appearence 11.9
6 gorlin-chaudhry-moss syndrome 11.7
7 cockayne syndrome 11.6
8 xeroderma pigmentosum, group d 11.5
9 cowden syndrome 1 11.4
10 xeroderma pigmentosum, group g 11.3
11 xeroderma pigmentosum, group b 11.3
12 xeroderma pigmentosum, group f 11.3
13 primary pigmented nodular adrenocortical disease 11.2
14 acth-independent macronodular adrenal hyperplasia 11.2
15 cockayne syndrome, type a 11.0
16 diabetes mellitus, noninsulin-dependent 11.0
17 bartonellosis 10.9
18 mitochondrial cardiomyopathy 10.9
19 cat-scratch disease 10.9
20 critical illness polyneuropathy 10.9
21 cerebral creatine deficiency syndrome 10.9
22 cerebral creatine deficiency syndrome 2 10.9
23 cowden disease 10.9
24 carnitine palmitoyltransferase ii deficiency 10.9
25 cold-induced sweating syndrome 10.9
26 craniofacial dyssynostosis 10.9
27 potocki-shaffer syndrome 10.8
28 ocular hypotension 10.7 FGFR2 FGFR3
29 phkg2-related phosphorylase kinase deficiency 10.6 FGFR1 FGFR2
30 intravascular angioleiomyoma 10.5 BMP6 FGF2
31 scrotal carcinoma 10.5 FGF2 TGFB1
32 anhidrosis 10.5 BMP6 TGFB1
33 hypereosinophilic syndrome 10.5 BMP6 TGFB1
34 spermatogenic failure 20 10.4 CD96 FGFR1
35 breast intracanalicular fibroadenoma 10.4 FGF2 FGFR3
36 strawberry gallbladder 10.4 BMP6 TGFB1
37 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.3 FGFR1 FGFR2
38 esotropia 10.3 FGFR2 FGFR3
39 plasmalogens synthesis deficiency isolated 10.3 FGFR1 FGFR2 FGFR3
40 trigonocephaly 1 10.3 FGFR1 FGFR2 FGFR3
41 hypogonadotropic hypogonadism 2 with or without anosmia 10.3 FGFR1 FGFR2 FGFR3
42 thanatophoric dysplasia, type i 10.3 FGFR1 FGFR2 FGFR3
43 thanatophoric dysplasia, type ii 10.3 FGFR1 FGFR2 FGFR3
44 syringobulbia 10.3 FGF2 FGFR1 FGFR3
45 hypochondroplasia 10.3 FGFR1 FGFR2 FGFR3
46 osteopetrosis and infantile neuroaxonal dystrophy 10.3 FGF2 FGFR1 FGFR3
47 myelofibrosis with myeloid metaplasia, somatic 10.3 BMP6 FGF2 TGFB1
48 cranial nerve malignant neoplasm 10.3 FGF2 TGFB1
49 y-linked disease 10.2 FGFR2 FGFR3 MSX2
50 acanthosis nigricans 10.2

Graphical network of the top 20 diseases related to Crouzon Syndrome:



Diseases related to Crouzon Syndrome

Symptoms & Phenotypes for Crouzon Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy
strabismus
hypertelorism
proptosis
poor vision
more
Head And Neck- Face:
frontal bossing
maxillary hypoplasia
mandibular prognathism

Head And Neck- Head:
brachycephaly
craniosynostosis

Respiratory- Nasopharynx:
sleep apnea

Head And Neck- Mouth:
lateral palatal swellings

Skeletal- Skull:
craniosynostosis (coronal, sagittal, lambdoid sutures)
calcification of stylohyoid ligament

Neurologic- Central Nervous System:
seizures
mental retardation, occasional
frequent headaches

Head And Neck- Ears:
conductive hearing loss
atretic external auditory canals

Head And Neck- Teeth:
dental crowding

Head And Neck- Nose:
parrot-like nose

Genitourinary- Internal Genitalia Female:
dysgerminoma (in 1 patient)

Skeletal- Spine:
cervical spine abnormalities


Clinical features from OMIM:

123500

Human phenotypes related to Crouzon Syndrome:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 headache 56 32 occasional (7.5%) Occasional (29-5%) HP:0002315
4 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
5 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
6 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
8 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
9 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
10 cerebellar hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0001321
11 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
12 narrow palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000189
13 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
14 brachycephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000248
15 amblyopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000646
16 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
17 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
18 conjunctivitis 56 32 frequent (33%) Frequent (79-30%) HP:0000509
19 acanthosis nigricans 56 32 occasional (7.5%) Occasional (29-5%) HP:0000956
20 hypopigmented skin patches 56 32 occasional (7.5%) Occasional (29-5%) HP:0001053
21 turricephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000262
22 arnold-chiari malformation 56 32 frequent (33%) Frequent (79-30%) HP:0002308
23 increased intracranial pressure 56 32 frequent (33%) Frequent (79-30%) HP:0002516
24 convex nasal ridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000444
25 abnormal facial shape 56 32 hallmark (90%) Very frequent (99-80%) HP:0001999
26 melanocytic nevus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000995
27 hypoplasia of the maxilla 56 32 frequent (33%) Frequent (79-30%) HP:0000327
28 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
29 multiple suture craniosynostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0011324
30 abnormality of the sacrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0005107
31 narrow internal auditory canal 56 32 occasional (7.5%) Occasional (29-5%) HP:0011386
32 visual impairment 32 HP:0000505
33 seizures 32 HP:0001250
34 intellectual disability 32 occasional (7.5%) HP:0001249
35 shallow orbits 32 HP:0000586
36 dental crowding 32 HP:0000678
37 sleep apnea 32 HP:0010535
38 coronal craniosynostosis 32 HP:0004440
39 hearing impairment 56 Occasional (29-5%)
40 sagittal craniosynostosis 32 HP:0004442
41 craniofacial dysostosis 32 HP:0004439
42 mandibular prognathia 32 HP:0000303
43 abnormality of the skull 56 Very frequent (99-80%)
44 atresia of the external auditory canal 32 HP:0000413
45 abnormality of the cervical spine 32 HP:0003319
46 lambdoidal craniosynostosis 32 HP:0004443
47 abnormality of the nasopharynx 32 HP:0001739

UMLS symptoms related to Crouzon Syndrome:


seizures, frequent headaches

MGI Mouse Phenotypes related to Crouzon Syndrome:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ALX3 DCN FGF13 FGF2 FGFR1 FGFR2
2 cellular MP:0005384 10.19 ALX3 DCN ERF FGF13 FGF2 FGFR1
3 growth/size/body region MP:0005378 10.15 ALX3 BMP6 DCN ERF FGFR1 FGFR2
4 craniofacial MP:0005382 10.13 ERF FGFR1 FGFR2 FGFR3 MSX2 TGFB1
5 mortality/aging MP:0010768 10.1 ALX3 DCN ERF FGF13 FGF2 FGFR1
6 hematopoietic system MP:0005397 10.06 DCN ERF FGF2 FGFR1 FGFR2 FGFR3
7 digestive/alimentary MP:0005381 10.05 ALX3 DCN FGFR1 FGFR2 FGFR3 MSX2
8 integument MP:0010771 9.98 DCN FGFR1 FGFR2 FGFR3 MSX2 TGFB1
9 nervous system MP:0003631 9.96 FGFR1 FGFR2 FGFR3 MSX2 TGFB1 VWA1
10 muscle MP:0005369 9.91 DCN FGF2 FGFR1 FGFR2 MSX2 TGFB1
11 hearing/vestibular/ear MP:0005377 9.88 FGFR3 MSX2 FGF2 FGFR1 FGFR2
12 reproductive system MP:0005389 9.76 DCN FGF2 FGFR1 FGFR2 FGFR3 TGFB1
13 neoplasm MP:0002006 9.72 DCN FGF2 FGFR2 FGFR3 TGFB1
14 skeleton MP:0005390 9.7 ALX3 BMP6 DCN ERF FGF2 FGFR1
15 vision/eye MP:0005391 9.23 ALX3 DCN FGF2 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Crouzon Syndrome

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

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3,Phase 1,Phase 2
2
Simvastatin Approved Phase 2 79902-63-9 54454
3
Benzocaine Approved Phase 1, Phase 2 1994-09-7, 94-09-7 2337
4
ponatinib Approved Phase 2 943319-70-8 24826799
5 tannic acid Approved, Nutraceutical Phase 1, Phase 2
6 Anticholesteremic Agents Phase 2
7 Antimetabolites Phase 2
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
9 Hypolipidemic Agents Phase 2
10 Lipid Regulating Agents Phase 2
11 Mitogens Phase 2,Phase 1
12 Anesthetics Phase 2
13 Antioxidants Phase 2
14 Protective Agents Phase 2
15 PONATINIB  Phase 2
16 Protein Kinase Inhibitors Phase 2
17 Phytosterol Nutraceutical Phase 1, Phase 2
18 tyrosine Nutraceutical Phase 1, Phase 2
19 Antibodies Phase 1
20 Immunoglobulins Phase 1
21
Adenosine Approved, Investigational 58-61-7 60961
22
Menthol Approved 2216-51-5 16666
23 Analgesics
24 Anti-Arrhythmia Agents
25 Neurotransmitter Agents
26 Peripheral Nervous System Agents
27 Vasodilator Agents

Interventional clinical trials:

(show all 29)

id Name Status NCT ID Phase Drugs
1 ARQ 087 in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 3 ARQ 087
2 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
3 Dovitinib for Gastric Cancer With FGFR2 Amplification Completed NCT01719549 Phase 2 Dovitinib
4 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
5 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
6 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
7 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
8 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
9 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398
10 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
11 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Active, not recruiting NCT01752920 Phase 1, Phase 2 ARQ 087
12 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
13 Pan FGFR Kinase Inhibitor BGJ398 in Treating Patients With FGFR1-3 Translocated, Mutated, or Amplified Recurrent Head and Neck Cancer Not yet recruiting NCT02706691 Phase 2 pan FGFR Kinase Inhibitor BGJ398
14 Pediatric MATCH: Pan-FGFR Tyrosine Kinase Inhibitor JNJ-42756493 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations Not yet recruiting NCT03210714 Phase 2 Erdafitinib
15 Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2) Terminated NCT02368951 Phase 1 BAY1187982
16 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
17 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
18 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
19 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
20 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
21 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
22 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
23 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
24 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
25 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
26 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
27 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
28 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475
29 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Crouzon Syndrome

Cochrane evidence based reviews: craniofacial dysostosis

Genetic Tests for Crouzon Syndrome

Genetic tests related to Crouzon Syndrome:

id Genetic test Affiliating Genes
1 Crouzon Syndrome 29 24 FGFR2
2 Craniofacial Dysostosis 29

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

39
Bone, Eye, Liver, Skin, Testes, Brain, Trachea
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
id Tissue Anatomical CompartmentCell Relevance
1 Bone Rostral Skull Membranous Bones Intramembrenous Osteocytes Affected by disease

Publications for Crouzon Syndrome

Articles related to Crouzon Syndrome:

(show top 50) (show all 175)
id Title Authors Year
1
Anesthetic Implications in a Child with Crouzon Syndrome. ( 28298794 )
2017
2
The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. ( 28479031 )
2017
3
Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome. ( 28060091 )
2017
4
Crouzon syndrome with multiple supernumerary teeth. ( 28091449 )
2017
5
The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. ( 27391494 )
2016
6
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. ( 27803855 )
2016
7
Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. ( 26613275 )
2016
8
Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. ( 27430617 )
2016
9
Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors. ( 27563623 )
2016
10
Crouzon Syndrome: Report in a Family. ( 26894196 )
2016
11
Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. ( 27424047 )
2016
12
High Le Fort I osteotomy for correction of mid-face deformity in Crouzon syndrome. ( 27092811 )
2016
13
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. ( 25650655 )
2015
14
Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. ( 26194556 )
2015
15
Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. ( 26021731 )
2015
16
The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity. ( 25759925 )
2015
17
S267P Mutation in FGFR2: First Report in a Patient With Crouzon Syndrome. ( 25759927 )
2015
18
Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus. ( 26176876 )
2015
19
Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. ( 26098546 )
2015
20
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. ( 26594993 )
2015
21
Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome. ( 26302737 )
2015
22
Deep Venous Thrombosis in Teen With Crouzon Syndrome Post-Le Fort III Osteotomy With Rigid External Distraction. ( 26595005 )
2015
23
Crouzon Syndrome: Visual Diagnosis. ( 26283152 )
2015
24
Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome. ( 25993748 )
2015
25
Family of Crouzon Syndrome Represents the Evolution of the Frontofacial Monobloc Advancement Technique: From Immediate Movement to Monobloc Distraction to Monobloc Bipartition Distraction. ( 26267562 )
2015
26
Orbitofrontal monobloc advancement for Crouzon syndrome. ( 24530078 )
2014
27
Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome. ( 25071892 )
2014
28
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. ( 25174698 )
2014
29
Crouzon syndrome with bony upper airway obstruction: case report and review literature. ( 24828762 )
2014
30
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome. ( 24741262 )
2014
31
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. ( 23913723 )
2014
32
Correction of infraorbital and malar deficiency using costal osteochondral graft along with orthognathic surgery in Crouzon syndrome. ( 25153066 )
2014
33
Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus. ( 24346169 )
2014
34
Identification of causative mutation in a korean family with crouzon syndrome using whole exome sequencing. ( 25361936 )
2014
35
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. ( 25245177 )
2014
36
The spheno-occipital synchondrosis fuses prematurely in patients with Crouzon syndrome and midface hypoplasia compared with age- and gender-matched controls. ( 24480760 )
2014
37
Non surgical treatment of Crouzon syndrome. ( 25209230 )
2014
38
Three-dimensional precise orientation of bilateral auricular trial prosthesis using a facebow for a young adult with Crouzon syndrome. ( 25096652 )
2014
39
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. ( 24476664 )
2014
40
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome]. ( 24928000 )
2014
41
A case of Crouzon syndrome treated by simultaneous bimaxillary distraction. ( 23886558 )
2014
42
Cutaneous features of Crouzon syndrome with acanthosis nigricans. ( 23571469 )
2013
43
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. ( 23808569 )
2013
44
Psychosocial conditions in adults with Crouzon syndrome: a follow-up study of 31 Swedish patients. ( 24328900 )
2013
45
Management of Crouzon syndrome in an adult patient. ( 24378546 )
2013
46
High le fort I and bilateral split sagittal osteotomy in crouzon syndrome. ( 23714981 )
2013
47
Foramen magnum size and involvement of its intraoccipital synchondroses in Crouzon syndrome. ( 24281646 )
2013
48
Dual midfacial distraction osteogenesis for Crouzon syndrome: long-term follow-up study for relapse and growth. ( 22374067 )
2012
49
Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings. ( 23986840 )
2012
50
Crouzon syndrome. ( 22605842 )
2012

Variations for Crouzon Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Crouzon Syndrome:

71 (show all 37)
id Symbol AA change Variation ID SNP ID
1 FGFR2 p.Tyr105Cys VAR_004112
2 FGFR2 p.Ser252Leu VAR_004113 rs79184941
3 FGFR2 p.Ser267Pro VAR_004118 rs121918505
4 FGFR2 p.Phe276Val VAR_004120
5 FGFR2 p.Cys278Phe VAR_004121 rs776587763
6 FGFR2 p.Gln289Pro VAR_004123 rs121918497
7 FGFR2 p.Trp290Arg VAR_004125 rs121918501
8 FGFR2 p.Lys292Glu VAR_004126 rs121918500
9 FGFR2 p.Tyr301Cys VAR_004127
10 FGFR2 p.Tyr328Cys VAR_004130 rs121918493
11 FGFR2 p.Asn331Ile VAR_004131
12 FGFR2 p.Gly338Glu VAR_004133
13 FGFR2 p.Tyr340His VAR_004134 rs121918489
14 FGFR2 p.Thr341Pro VAR_004135 rs121918495
15 FGFR2 p.Cys342Phe VAR_004136
16 FGFR2 p.Cys342Arg VAR_004137 rs121918488
17 FGFR2 p.Cys342Ser VAR_004138 rs121918488
18 FGFR2 p.Cys342Tyr VAR_004139 rs121918487
19 FGFR2 p.Ala344Gly VAR_004140 rs121918492
20 FGFR2 p.Ala344Pro VAR_004141
21 FGFR2 p.Ser347Cys VAR_004142 rs121918494
22 FGFR2 p.Ser351Cys VAR_004143 rs121918502
23 FGFR2 p.Ser354Cys VAR_004144 rs121918490
24 FGFR2 p.Val359Phe VAR_004146
25 FGFR2 p.Gly384Arg VAR_004147
26 FGFR2 p.Gly338Arg VAR_015011
27 FGFR2 p.Pro263Leu VAR_017261 rs779326224
28 FGFR2 p.Cys278Tyr VAR_017263
29 FGFR2 p.Tyr281Cys VAR_017264
30 FGFR2 p.Ile288Ser VAR_017265
31 FGFR2 p.Trp290Gly VAR_017266 rs121918501
32 FGFR2 p.Ala337Pro VAR_017268 rs387906676
33 FGFR2 p.Cys342Trp VAR_017271 rs121918496
34 FGFR2 p.Ser354Tyr VAR_017272
35 FGFR2 p.Ala362Ser VAR_017273
36 FGFR2 p.Asn549His VAR_017276
37 FGFR2 p.Arg678Gly VAR_017281

ClinVar genetic disease variations for Crouzon Syndrome:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
3 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
4 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 GRCh37 Chromosome 10, 123276899: 123276899
5 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 GRCh37 Chromosome 10, 123276856: 123276856
6 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
7 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
8 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
9 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh37 Chromosome 10, 123276886: 123276886
10 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 GRCh37 Chromosome 10, 123276934: 123276934
11 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
12 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 GRCh37 Chromosome 10, 123276891: 123276891
13 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
14 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 GRCh37 Chromosome 10, 123279558: 123279558
15 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
16 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
17 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
18 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh37 Chromosome 10, 123258105: 123258105
19 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
20 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 GRCh37 Chromosome 10, 123276908: 123276908
21 FGFR2 NM_000141.4(FGFR2): c.1645A> C (p.Asn549His) single nucleotide variant Likely pathogenic rs1057519045 GRCh37 Chromosome 10, 123258036: 123258036
22 FGFR2 NM_000141.4(FGFR2): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs1057519044 GRCh38 Chromosome 10, 121517390: 121517390
23 FGFR2 NM_000141.4(FGFR2): c.1012G> C (p.Gly338Arg) single nucleotide variant Pathogenic rs1057519043 GRCh38 Chromosome 10, 121517391: 121517391
24 FGFR2 NM_000141.4(FGFR2): c.1007A> G (p.Asp336Gly) single nucleotide variant Pathogenic rs1057519042 GRCh38 Chromosome 10, 121517396: 121517396
25 FGFR2 NM_000141.4(FGFR2): c.923A> G (p.Tyr308Cys) single nucleotide variant Pathogenic rs1057519040 GRCh37 Chromosome 10, 123279509: 123279509
26 FGFR2 NM_000141.4(FGFR2): c.869G> C (p.Trp290Ser) single nucleotide variant Pathogenic rs1057519039 GRCh37 Chromosome 10, 123279563: 123279563
27 FGFR2 NM_000141.4(FGFR2): c.842A> G (p.Tyr281Cys) single nucleotide variant Likely pathogenic rs1057519038 GRCh37 Chromosome 10, 123279590: 123279590
28 FGFR2 NM_000141.4(FGFR2): c.826T> G (p.Phe276Val) single nucleotide variant Pathogenic rs1057519036 GRCh37 Chromosome 10, 123279606: 123279606

Expression for Crouzon Syndrome

Search GEO for disease gene expression data for Crouzon Syndrome.

Pathways for Crouzon Syndrome

Pathways related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show all 41)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.46 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.44 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.32 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.21 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.18 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.13 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.91 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.86 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.65 FGF13 FGF2 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.62 FGF2 FGFR1 FGFR2 FGFR3
12 12.6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
13 12.56 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
14 12.54 FGF13 FGF2 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.5 FGF2 FGFR1 FGFR2 FGFR3
16 12.48 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
17
Show member pathways
12.47 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
18
Show member pathways
12.35 FGF2 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.32 FGF13 FGF2 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.32 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.27 FGF13 FGF2 FGFR1 FGFR2 FGFR3
22 12.24 DCN FGF2 FGFR1 TGFB1
23
Show member pathways
12.21 FGF2 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.16 FGF2 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.09 FGF2 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.06 FGF2 FGFR2 TGFB1
27 12.01 FGF2 FGFR1 FGFR2 FGFR3
28 11.99 FGF2 FGFR1 FGFR2 FGFR3
29 11.98 FGF13 FGF2 TGFB1
30 11.77 FGF2 FGFR1 FGFR2 FGFR3 MSX2
31 11.76 BMP6 DCN TGFB1
32 11.73 FGF2 FGFR1 FGFR3
33 11.7 BMP6 DCN FGF2 MSX2 TGFB1
34 11.63 FGFR1 FGFR2 FGFR3
35 11.59 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
36 11.48 FGF2 FGFR1 TGFB1
37 11.43 FGFR1 FGFR2 FGFR3
38 11.17 BMP6 FGF2 FGFR1 FGFR3 TGFB1
39 11.12 FGF2 FGFR1 TGFB1
40 11.06 FGF2 FGFR2
41 10.86 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3

GO Terms for Crouzon Syndrome

Cellular components related to Crouzon Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 BMP6 DCN FGF13 FGF2 FGFR1 FGFR2

Biological processes related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show all 46)
id Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.96 ALX3 BMP6 MSX2 TGFB1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 FGF2 FGFR2 FGFR3 TGFB1
3 peptidyl-tyrosine phosphorylation GO:0018108 9.88 FGF2 FGFR1 FGFR2 FGFR3
4 protein autophosphorylation GO:0046777 9.87 FGFR1 FGFR2 FGFR3
5 skeletal system development GO:0001501 9.85 BMP6 FGFR1 FGFR3
6 animal organ morphogenesis GO:0009887 9.85 DCN FGF2 FGFR2
7 BMP signaling pathway GO:0030509 9.83 BMP6 MSX2 TGFB1
8 positive regulation of MAPK cascade GO:0043410 9.83 FGFR1 FGFR2 FGFR3
9 positive regulation of epithelial cell proliferation GO:0050679 9.8 BMP6 FGFR2 TGFB1
10 positive regulation of MAP kinase activity GO:0043406 9.79 FGF2 FGFR1 TGFB1
11 positive regulation of cell division GO:0051781 9.76 FGF2 FGFR2 TGFB1
12 phosphatidylinositol-mediated signaling GO:0048015 9.76 FGF2 FGFR1 FGFR2 FGFR3
13 ureteric bud development GO:0001657 9.74 FGFR1 FGFR2 TGFB1
14 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF2 FGFR1 FGFR2 FGFR3
15 chondrocyte differentiation GO:0002062 9.72 FGFR1 FGFR3 TGFB1
16 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 FGF2 FGFR1 FGFR2 FGFR3
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR1 FGFR2
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.7 FGF2 FGFR1 FGFR2
19 embryonic hindlimb morphogenesis GO:0035116 9.69 ALX3 MSX2
20 endochondral ossification GO:0001958 9.69 BMP6 FGFR3
21 outflow tract septum morphogenesis GO:0003148 9.69 FGFR2 MSX2
22 bone morphogenesis GO:0060349 9.69 FGFR2 FGFR3 MSX2
23 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.68 FGFR2 TGFB1
24 positive regulation of blood vessel endothelial cell migration GO:0043536 9.68 FGF2 TGFB1
25 negative regulation of blood vessel endothelial cell migration GO:0043537 9.68 FGF2 TGFB1
26 hyaluronan catabolic process GO:0030214 9.67 FGF2 TGFB1
27 positive regulation of SMAD protein import into nucleus GO:0060391 9.67 BMP6 TGFB1
28 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.67 FGF2 FGFR3 TGFB1
29 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.67 FGF2 FGFR1 FGFR2 FGFR3
30 branching involved in salivary gland morphogenesis GO:0060445 9.66 FGFR1 FGFR2
31 salivary gland morphogenesis GO:0007435 9.65 FGFR1 TGFB1
32 lung-associated mesenchyme development GO:0060484 9.64 FGFR1 FGFR2
33 mesenchymal cell differentiation GO:0048762 9.64 FGFR1 FGFR2
34 positive regulation of phospholipase C activity GO:0010863 9.63 FGF2 FGFR1
35 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.62 FGF2 FGFR1 FGFR2 FGFR3
36 frontal suture morphogenesis GO:0060364 9.61 MSX2 TGFB1
37 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.6 FGF2 FGFR1
38 orbitofrontal cortex development GO:0021769 9.59 FGFR1 FGFR2
39 ventricular zone neuroblast division GO:0021847 9.54 FGFR1 FGFR2
40 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.48 FGFR1 FGFR2
41 positive regulation of phospholipase activity GO:0010518 9.43 FGFR1 FGFR2 FGFR3
42 MAPK cascade GO:0000165 9.43 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
43 endochondral bone growth GO:0003416 9.33 FGFR2 FGFR3 MSX2
44 wound healing GO:0042060 9.02 DCN FGF2 FGFR2 MSX2 TGFB1
45 positive regulation of cell proliferation GO:0008284 10.03 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
46 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.03 BMP6 ERF FGFR1 FGFR2 MSX2 TGFB1

Molecular functions related to Crouzon Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.71 FGF2 FGFR1 FGFR2 FGFR3
2 growth factor activity GO:0008083 9.67 BMP6 FGF13 FGF2 TGFB1
3 heparin binding GO:0008201 9.65 FGF2 FGFR1 FGFR2
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.62 FGF2 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF2 FGFR1 FGFR2 FGFR3
7 receptor-receptor interaction GO:0090722 9.43 FGF2 FGFR1
8 fibroblast growth factor binding GO:0017134 9.43 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF2 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Crouzon Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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28 GO
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70 UMLS via Orphanet
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