MCID: CRZ001
MIFTS: 71

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 53 37 12 72 72 49 24 71 36 28 13 51 14
Crouzon Craniofacial Dysostosis 53 49 24 55 71
Craniofacial Dysostosis 12 72 24 41
Cfd1 53 49 71
Craniofacial Dysostosis Type 1 49 69
Crouzon's Disease 12 24
Crouzon Disease 49 55
Craniofacial Dysostosis, Type I; Cfd1 53
Craniofacial Dysostosis, Type 1; Cfd1 24
Craniofacial Dysostosis Syndrome 24
Craniofacial Dysostosis, Type I 53
Craniofacial Dysostosis Type I 71
Craniofacial Dysarthrosis 24
Crouzons Disease 24
Cs 71

Characteristics:

Orphanet epidemiological data:

55
crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
associated with increased paternal age


HPO:

31
crouzon syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Crouzon Syndrome

NIH Rare Diseases : 49 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 achondroplasia and pfeiffer syndrome, and has symptoms including headache, hypertelorism and frontal bossing. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Docetaxel and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and eye, and related phenotypes are behavior/neurological and cellular

OMIM : 53 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)

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 : 24 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.

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.

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 112)
# Related Disease Score Top Affiliating Genes
1 achondroplasia 30.0 FGFR1 FGFR2 FGFR3
2 pfeiffer syndrome 30.0 FGFR1 FGFR2 FGFR3
3 apert syndrome 29.9 FGF2 FGFR1 FGFR2 FGFR3
4 plagiocephaly 29.8 FGFR1 FGFR2 FGFR3
5 jackson-weiss syndrome 29.8 FGFR1 FGFR2 FGFR3
6 hydrocephalus 29.8 FGFR2 FGFR3 TGFB1
7 synostosis 29.6 FGFR1 FGFR2 FGFR3 MSX2
8 thanatophoric dysplasia, type i 29.4 FGF13 FGFR2 FGFR3
9 saethre-chotzen syndrome 29.3 FGFR1 FGFR2 FGFR3 MSX2
10 craniosynostosis 29.2 ERF FGF2 FGFR1 FGFR2 FGFR3 MSX2
11 crouzon syndrome with acanthosis nigricans 12.5
12 craniofacial dysostosis with diaphyseal hyperplasia 12.3
13 craniofacial dysostosis arthrogryposis progeroid appearence 12.0
14 gorlin-chaudhry-moss syndrome 12.0
15 cowden syndrome 1 11.6
16 xeroderma pigmentosum, complementation group d 11.5
17 xeroderma pigmentosum, complementation group f 11.5
18 xeroderma pigmentosum, complementation group g 11.5
19 xeroderma pigmentosum, complementation group b 11.5
20 primary pigmented nodular adrenocortical disease 11.4
21 acth-independent macronodular adrenal hyperplasia 11.3
22 kleeblattschaedel 11.3
23 cockayne syndrome 11.2
24 cockayne syndrome a 11.2
25 diabetes mellitus, noninsulin-dependent 11.1
26 cowden disease 11.0
27 cerebrooculofacioskeletal syndrome 1 11.0
28 cold-induced sweating syndrome 1 11.0
29 craniofacial dyssynostosis 11.0
30 body mass index quantitative trait locus 11 11.0
31 carnitine palmitoyltransferase ii deficiency, infantile 11.0
32 encephalopathy, ethylmalonic 11.0
33 cerebral creatine deficiency syndrome 2 11.0
34 cerebral creatine deficiency syndrome 11.0
35 bartonellosis 11.0
36 cat-scratch disease 11.0
37 critical illness polyneuropathy 11.0
38 leber hereditary optic neuropathy 11.0
39 potocki-shaffer syndrome 11.0
40 mitochondrial disorders 10.8
41 luteoma 10.4 FGFR2 FGFR3
42 beare-stevenson cutis gyrata syndrome 10.4 FGFR2 FGFR3
43 laryngitis 10.3 FGF2 TGFB1
44 melorheostosis 10.3 BMP6 FGF2
45 cholecystolithiasis 10.3 BMP6 TGFB1
46 acanthosis nigricans 10.3
47 tuberculoid leprosy 10.3 BMP6 TGFB1
48 hypertropia 10.2 FGFR2 FGFR3
49 radioulnar synostosis 10.2 FGFR1 FGFR2
50 hypertrophic scars 10.2 BMP6 TGFB1

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:

53
Neurologic Central Nervous System:
seizures
frequent headaches
mental retardation, occasional

Head And Neck Face:
frontal bossing
maxillary hypoplasia
mandibular prognathism

Head And Neck Head:
brachycephaly
craniosynostosis

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

Head And Neck Mouth:
lateral palatal swellings

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

Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
proptosis
shallow orbits
more
Respiratory Nasopharynx:
sleep apnea

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:

55 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
2 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
3 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
5 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
6 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
7 narrow palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000189
8 increased intracranial pressure 55 31 frequent (33%) Frequent (79-30%) HP:0002516
9 abnormal facial shape 55 31 hallmark (90%) Very frequent (99-80%) HP:0001999
10 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
11 brachycephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000248
12 acanthosis nigricans 55 31 occasional (7.5%) Occasional (29-5%) HP:0000956
13 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
14 melanocytic nevus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000995
15 hypopigmented skin patches 55 31 occasional (7.5%) Occasional (29-5%) HP:0001053
16 cerebellar hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001321
17 arnold-chiari malformation 55 31 frequent (33%) Frequent (79-30%) HP:0002308
18 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
19 conductive hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000405
20 turricephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000262
21 choanal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000453
22 multiple suture craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0011324
23 amblyopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000646
24 conjunctivitis 55 31 frequent (33%) Frequent (79-30%) HP:0000509
25 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
26 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
27 convex nasal ridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000444
28 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
29 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
30 abnormality of the sacrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0005107
31 narrow internal auditory canal 55 31 occasional (7.5%) Occasional (29-5%) HP:0011386
32 seizures 31 HP:0001250
33 intellectual disability 31 occasional (7.5%) HP:0001249
34 sleep apnea 31 HP:0010535
35 mandibular prognathia 31 HP:0000303
36 hearing impairment 55 Occasional (29-5%)
37 visual impairment 31 HP:0000505
38 abnormality of the skull 55 Very frequent (99-80%)
39 coronal craniosynostosis 31 HP:0004440
40 dental crowding 31 HP:0000678
41 atresia of the external auditory canal 31 HP:0000413
42 abnormality of the cervical spine 31 HP:0003319
43 sagittal craniosynostosis 31 HP:0004442
44 shallow orbits 31 HP:0000586
45 dysgerminoma 31 HP:0100621
46 lambdoidal craniosynostosis 31 HP:0004443
47 craniofacial dysostosis 31 HP:0004439
48 abnormality of the nasopharynx 31 HP:0001739

UMLS symptoms related to Crouzon Syndrome:


seizures, frequent headaches

MGI Mouse Phenotypes related to Crouzon Syndrome:

43 (show all 15)
# 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 ALX3 DCN ERF FGFR1 FGFR2 FGFR3
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 MSX2 TGFB1 ALX3 DCN FGFR1 FGFR2
8 integument MP:0010771 9.98 FGFR2 FGFR3 MSX2 TGFB1 VWA1 DCN
9 nervous system MP:0003631 9.96 ALX3 ERF FGF13 FGF2 FGFR1 FGFR2
10 muscle MP:0005369 9.91 DCN FGF2 FGFR1 FGFR2 MSX2 TGFB1
11 hearing/vestibular/ear MP:0005377 9.88 MSX2 FGF2 FGFR1 FGFR2 FGFR3
12 reproductive system MP:0005389 9.76 ALX3 BMP6 DCN FGF2 FGFR1 FGFR2
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 FGFR2 FGFR3 MSX2 TGFB1 ALX3 DCN

Drugs & Therapeutics for Crouzon Syndrome

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Docetaxel Approved May 1996, Investigational Phase 2, Phase 3 114977-28-5 148124 9877265
2 Antimitotic Agents Phase 2, Phase 3
3
Simvastatin Approved Phase 2 79902-63-9 54454
4
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
5
ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
6 tannic acid Approved, Nutraceutical Phase 1, Phase 2
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Hypolipidemic Agents Phase 2
11 Lipid Regulating Agents Phase 2
12 Mitogens Phase 2,Phase 1
13 Liver Extracts Phase 2,Phase 1
14 Anesthetics Phase 2
15 Antioxidants Phase 2
16 Protective Agents Phase 2
17 PONATINIB  Phase 2
18 Protein Kinase Inhibitors Phase 2
19 Phytosterol Nutraceutical Phase 1, Phase 2
20 tyrosine Nutraceutical Phase 1, Phase 2
21 Antibodies Phase 1
22 Immunoglobulins Phase 1
23
Adenosine Approved, Investigational 58-61-7 60961
24
Menthol Approved 2216-51-5 16666
25 Analgesics
26 Anti-Arrhythmia Agents
27 Neurotransmitter Agents
28 Peripheral Nervous System Agents
29 Vasodilator Agents

Interventional clinical trials:

(show all 31)

# Name Status NCT ID Phase Drugs
1 Lung-MAP: AZD4547 as Second-Line Therapy in Treating FGFR Positive Patients With Recurrent Stage IV Squamous Cell Lung Cancer Active, not recruiting NCT02965378 Phase 2, Phase 3 Docetaxel;FGFR Inhibitor AZD4547
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 ARQ 087 in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma Recruiting NCT03230318 Phase 2 ARQ 087
10 A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma Recruiting NCT02150967 Phase 2 BGJ398
11 Pediatric MATCH: Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations Recruiting NCT03210714 Phase 2 Erdafitinib
12 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
13 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
14 Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions Active, not recruiting NCT02265341 Phase 2 Ponatinib Hydrochloride
15 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
16 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
17 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
18 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752
19 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
20 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
21 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
22 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
23 Observing the Relationship of Fibroblast Growth Factor and Fibroblast in Thyroid Eye Disease Recruiting NCT03324022
24 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
25 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
26 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
27 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
28 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
29 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
30 Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions Terminated NCT01307475
31 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:

# Genetic test Affiliating Genes
1 Crouzon Syndrome 28 FGFR2

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

38
Bone, Eye, Lung, Skin, Liver, Thyroid, Trachea
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:
# 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 188)
# Title Authors Year
1
Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome. ( 29024761 )
2018
2
Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome. ( 29223639 )
2018
3
Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome. ( 29224414 )
2018
4
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation. ( 29067506 )
2018
5
Subluxation of Eyes in Crouzon Syndrome. ( 28891490 )
2017
6
Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome. ( 28060091 )
2017
7
Crouzon syndrome - A rare case report. ( 29085273 )
2017
8
Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome. ( 29235060 )
2017
9
Crouzon syndrome with multiple supernumerary teeth. ( 28091449 )
2017
10
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. ( 28901406 )
2017
11
The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. ( 28479031 )
2017
12
Clinical characteristics of Crouzon syndrome. ( 28757702 )
2017
13
Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation. ( 29268076 )
2017
14
Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report. ( 29280899 )
2017
15
Anesthetic Implications in a Child with Crouzon Syndrome. ( 28298794 )
2017
16
Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management. ( 29109840 )
2017
17
Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. ( 27430617 )
2016
18
Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors. ( 27563623 )
2016
19
Crouzon Syndrome: Report in a Family. ( 26894196 )
2016
20
Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. ( 27424047 )
2016
21
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. ( 27803855 )
2016
22
The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. ( 27391494 )
2016
23
Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. ( 26613275 )
2016
24
High Le Fort I osteotomy for correction of mid-face deformity in Crouzon syndrome. ( 27092811 )
2016
25
Deep Venous Thrombosis in Teen With Crouzon Syndrome Post-Le Fort III Osteotomy With Rigid External Distraction. ( 26595005 )
2015
26
Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. ( 26098546 )
2015
27
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. ( 26594993 )
2015
28
Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. ( 26021731 )
2015
29
Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus. ( 26176876 )
2015
30
Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome. ( 25993748 )
2015
31
Crouzon Syndrome: Visual Diagnosis. ( 26283152 )
2015
32
Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. ( 26194556 )
2015
33
The C342R Mutation in FGFR2 Causes Crouzon Syndrome With Elbow Deformity. ( 25759925 )
2015
34
Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome. ( 26302737 )
2015
35
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
36
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. ( 25650655 )
2015
37
S267P Mutation in FGFR2: First Report in a Patient With Crouzon Syndrome. ( 25759927 )
2015
38
Non surgical treatment of Crouzon syndrome. ( 25209230 )
2014
39
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome. ( 24741262 )
2014
40
Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. ( 25245177 )
2014
41
A case of Crouzon syndrome treated by simultaneous bimaxillary distraction. ( 23886558 )
2014
42
Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus. ( 24346169 )
2014
43
Three-dimensional precise orientation of bilateral auricular trial prosthesis using a facebow for a young adult with Crouzon syndrome. ( 25096652 )
2014
44
Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. ( 24476664 )
2014
45
Orbitofrontal monobloc advancement for Crouzon syndrome. ( 24530078 )
2014
46
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome]. ( 24928000 )
2014
47
Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome. ( 25071892 )
2014
48
Crouzon syndrome with bony upper airway obstruction: case report and review literature. ( 24828762 )
2014
49
The spheno-occipital synchondrosis fuses prematurely in patients with Crouzon syndrome and midface hypoplasia compared with age- and gender-matched controls. ( 24480760 )
2014
50
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. ( 23913723 )
2014

Variations for Crouzon Syndrome

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

71 (show all 37)
# 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 rs1057519036Crouzon
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 rs1057519044Crouzon
13 FGFR2 p.Tyr340His VAR_004134 rs121918489
14 FGFR2 p.Thr341Pro VAR_004135 rs121918495
15 FGFR2 p.Cys342Phe VAR_004136 rs121918487
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 rs1057519043Crouzon
27 FGFR2 p.Pro263Leu VAR_017261 rs779326224
28 FGFR2 p.Cys278Tyr VAR_017263
29 FGFR2 p.Tyr281Cys VAR_017264 rs1057519038Crouzon
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 rs1057519045Crouzon
37 FGFR2 p.Arg678Gly VAR_017281

ClinVar genetic disease variations for Crouzon Syndrome:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121918487 GRCh37 Chromosome 10, 123276892: 123276892
2 FGFR2 NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His) single nucleotide variant Pathogenic rs121918489 GRCh37 Chromosome 10, 123276899: 123276899
3 FGFR2 NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys) single nucleotide variant Pathogenic rs121918490 GRCh37 Chromosome 10, 123276856: 123276856
4 FGFR2 NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
5 FGFR2 NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser) single nucleotide variant Pathogenic rs121918488 GRCh37 Chromosome 10, 123276893: 123276893
6 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
7 FGFR2 NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly) single nucleotide variant Pathogenic rs121918492 GRCh37 Chromosome 10, 123276886: 123276886
8 FGFR2 NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys) single nucleotide variant Pathogenic rs121918493 GRCh37 Chromosome 10, 123276934: 123276934
9 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
10 FGFR2 NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp) single nucleotide variant Pathogenic rs121918496 GRCh37 Chromosome 10, 123276891: 123276891
11 FGFR2 NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro) single nucleotide variant Pathogenic rs121918497 GRCh37 Chromosome 10, 123279566: 123279566
12 FGFR2 NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu) single nucleotide variant Pathogenic rs121918500 GRCh37 Chromosome 10, 123279558: 123279558
13 FGFR2 NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
14 FGFR2 NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly) single nucleotide variant Pathogenic rs121918501 GRCh37 Chromosome 10, 123279564: 123279564
15 FGFR2 NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro) single nucleotide variant Pathogenic rs121918505 GRCh37 Chromosome 10, 123279633: 123279633
16 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh37 Chromosome 10, 123258105: 123258105
17 FGFR2 NM_000141.4(FGFR2): c.1084+3A> G single nucleotide variant Pathogenic rs879253721 GRCh38 Chromosome 10, 121517316: 121517316
18 FGFR2 NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs387906676 GRCh37 Chromosome 10, 123276908: 123276908
19 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
20 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
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 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.6 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.46 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.44 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.31 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.2 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.16 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.12 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.95 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
10
Show member pathways
12.89 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.86 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
12 12.76 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
13 12.68 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
14
Show member pathways
12.66 FGF2 FGFR1 FGFR2 TGFB1
15
Show member pathways
12.62 FGF2 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.62 FGF2 FGFR1 FGFR2 FGFR3
17 12.51 FGF13 FGF2 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.48 FGF2 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.34 FGF2 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.3 FGF13 FGF2 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.26 FGF13 FGF2 FGFR1 FGFR2 FGFR3
22 12.24 DCN FGF2 FGFR1 TGFB1
23
Show member pathways
12.2 FGF2 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.15 FGF2 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.12 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.08 FGF2 FGFR1 FGFR2 FGFR3
27
Show member pathways
12.06 FGF2 FGFR2 TGFB1
28 12.03 FGF2 FGFR1 FGFR2 FGFR3
29 11.98 FGF2 FGFR1 FGFR2 FGFR3
30 11.97 FGF13 FGF2 TGFB1
31 11.76 BMP6 DCN TGFB1
32 11.73 FGF2 FGFR1 FGFR2 FGFR3 MSX2
33 11.72 FGF2 FGFR1 FGFR3
34 11.64 BMP6 DCN FGF2 MSX2 TGFB1
35 11.62 FGFR1 FGFR2 FGFR3
36 11.5 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
37 11.47 FGF2 FGFR1 TGFB1
38 11.42 FGFR1 FGFR2 FGFR3
39 11.33 FGFR1 FGFR2 FGFR3 TGFB1
40 11.33 FGF2 FGFR1 FGFR2 FGFR3
41 11.19 FGF2 FGFR1
42 11.1 FGF2 FGFR1 TGFB1
43 11.06 FGF2 FGFR2
44 10.83 BMP6 FGF2 FGFR1 FGFR3 TGFB1
45 10.82 BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3

GO Terms for Crouzon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.26 DCN FGFR2 TGFB1 VWA1
2 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 45)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.98 BMP6 FGF13 FGF2 TGFB1
2 regulation of apoptotic process GO:0042981 9.96 ALX3 BMP6 MSX2 TGFB1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 FGF2 FGFR2 FGFR3 TGFB1
4 protein autophosphorylation GO:0046777 9.87 FGFR1 FGFR2 FGFR3
5 peptidyl-tyrosine phosphorylation GO:0018108 9.87 FGF2 FGFR1 FGFR2 FGFR3
6 skeletal system development GO:0001501 9.85 BMP6 FGFR1 FGFR3
7 animal organ morphogenesis GO:0009887 9.84 DCN FGF2 FGFR2
8 positive regulation of MAPK cascade GO:0043410 9.83 FGFR1 FGFR2 FGFR3
9 BMP signaling pathway GO:0030509 9.82 BMP6 MSX2 TGFB1
10 positive regulation of epithelial cell proliferation GO:0050679 9.79 BMP6 FGFR2 TGFB1
11 positive regulation of MAP kinase activity GO:0043406 9.79 FGF2 FGFR1 TGFB1
12 positive regulation of protein kinase B signaling GO:0051897 9.77 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
13 positive regulation of cell division GO:0051781 9.75 FGF2 FGFR2 TGFB1
14 ureteric bud development GO:0001657 9.73 FGFR1 FGFR2 TGFB1
15 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF2 FGFR1 FGFR2 FGFR3
16 chondrocyte differentiation GO:0002062 9.71 FGFR1 FGFR3 TGFB1
17 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 FGF2 FGFR1 FGFR2 FGFR3
18 negative regulation of blood vessel endothelial cell migration GO:0043537 9.7 FGF2 TGFB1
19 embryonic hindlimb morphogenesis GO:0035116 9.69 ALX3 MSX2
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.69 FGFR1 FGFR2
21 positive regulation of cardiac muscle cell proliferation GO:0060045 9.69 FGF2 FGFR1 FGFR2
22 outflow tract septum morphogenesis GO:0003148 9.68 FGFR2 MSX2
23 endochondral ossification GO:0001958 9.68 BMP6 FGFR3
24 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.68 FGFR2 TGFB1
25 hyaluronan catabolic process GO:0030214 9.67 FGF2 TGFB1
26 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3 MSX2
27 positive regulation of SMAD protein import into nucleus GO:0060391 9.66 BMP6 TGFB1
28 branching involved in salivary gland morphogenesis GO:0060445 9.65 FGFR1 FGFR2
29 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.65 FGF2 FGFR3 TGFB1
30 salivary gland morphogenesis GO:0007435 9.64 FGFR1 TGFB1
31 mesenchymal cell differentiation GO:0048762 9.64 FGFR1 FGFR2
32 positive regulation of phospholipase C activity GO:0010863 9.63 FGF2 FGFR1
33 lung-associated mesenchyme development GO:0060484 9.63 FGFR1 FGFR2
34 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.62 FGF2 FGFR1 FGFR2 FGFR3
35 frontal suture morphogenesis GO:0060364 9.6 MSX2 TGFB1
36 positive regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000546 9.59 FGF2 FGFR1
37 orbitofrontal cortex development GO:0021769 9.58 FGFR1 FGFR2
38 ventricular zone neuroblast division GO:0021847 9.52 FGFR1 FGFR2
39 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.46 FGFR1 FGFR2
40 positive regulation of phospholipase activity GO:0010518 9.43 FGFR1 FGFR2 FGFR3
41 MAPK cascade GO:0000165 9.43 FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
42 endochondral bone growth GO:0003416 9.33 FGFR2 FGFR3 MSX2
43 wound healing GO:0042060 9.02 DCN FGF2 FGFR2 MSX2 TGFB1
44 positive regulation of cell proliferation GO:0008284 10.02 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
45 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 BMP6 ERF FGFR1 FGFR2 MSX2 TGFB1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.71 BMP6 FGF13 FGF2 TGFB1
2 protein tyrosine kinase activity GO:0004713 9.67 FGF2 FGFR1 FGFR2 FGFR3
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
18 FMA
27 GO
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30 HMDB
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