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SCS
MCID: STH001
MIFTS: 67

Saethre-Chotzen Syndrome (SCS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Saethre-Chotzen Syndrome

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MalaCards integrated aliases for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 56 12 74 24 52 25 58 73 36 29 54 6 15 71
Acs3 56 52 25 58 73
Scs 56 52 25 58 73
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 56 52 25
Acrocephalosyndactyly Type 3 52 58 73
Chotzen Syndrome 56 52 25
Acs Iii 56 25 73
Acrocephalosyndactyly, Type Iii 56 25
Acrocephalosyndactyly Type Iii 12 24
Saethre-Chotzen Syndrome with or Without Eyelid Anomalies 56
Syndrome, Saethre-Chotzen, with/without Eyelid Anomalies 39
Dysostosis Craniofacialis with Hypertelorism 25
Acrocephalosyndactyly, Type Iii; Acs3 56
Acrocephalo-Syndactyly, Type 3 52
Acrocephalosyndactyly Iii 25
Sakati Syndrome 71
Acs 3 52

Characteristics:

Orphanet epidemiological data:

58
saethre-chotzen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
variable expressivity
few patients with mild to moderate mental retardation
incidence of 1 in 25,000 to 1 in 50,000 newborns
phenotypic overlap with muenke syndrome due to a mutation in the fgfr3 gene (p250r, )

Inheritance:
autosomal dominant


HPO:

31
saethre-chotzen syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


GeneReviews:

24
Penetrance Precise penetrance data are not available; however, wide phenotypic variability and incomplete penetrance are well described [dollfus et al 2002, de heer et al 2005].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Saethre-Chotzen Syndrome

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Genetics Home Reference : 25 Saethre-Chotzen syndrome is a genetic condition 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. Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, unusually shaped ears. The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild abnormalities of the hands and feet, such as fusion of the skin between the second and third fingers on each hand and a broad or duplicated first (big) toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects. Robinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a mild variant of Saethre-Chotzen syndrome.

MalaCards based summary : Saethre-Chotzen Syndrome, also known as acs3, is related to chromosome 2q35 duplication syndrome and fgfr-related craniosynostosis syndromes. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and heart, and related phenotypes are finger syndactyly and craniosynostosis

Disease Ontology : 12 An acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull.

NIH Rare Diseases : 52 Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis ). This early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face. Other features may include webbing of certain fingers or toes (syndactyly ), small or unusually shaped ears, short stature , and abnormalities of the bones in the spine (the vertebrae). The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations (variants) in the TWIST1 gene cause most cases of Saethre-Chotzen syndrome. The condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. Treatment is aimed at addressing the symptoms found in each individual and may require the coordinated efforts of a team of specialists. Surgery is often needed to prevent or correct early closure of the cranial sutures and correct certain craniofacial abnormalities, syndactyly and/or skeletal defects.

OMIM : 56 Saethre-Chotzen syndrome is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia. Other features include high forehead, low frontal hairline, late-closing fontanel, strabismus, ptosis, lacrimal duct stenosis, deviated nasal septum, small low-set posteriorly rotated ears with prominent crus, and hearing loss. The limb anomalies consist of radioulnar synostosis, brachydactyly, cutaneous syndactyly, and hallux valgus. Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. Inter- and intrafamilial variability is significant, with some patients having fusion of other sutures, or no apparent craniosynostosis but abnormal skull morphology. The degree of syndactyly is also variable, and digital abnormalities can be absent (Jabs, 2008). (101400)

KEGG : 36 Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported in SCS. In addition, mutations in FGFR2 was also detected.

UniProtKB/Swiss-Prot : 73 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Wikipedia : 74 Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital... more...

GeneReviews: NBK1189
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Related Diseases for Saethre-Chotzen Syndrome

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Diseases related to Saethre-Chotzen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 464)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 33.3 MSX2 FGFR3 FGFR2 FGFR1 CFAP47
2 fgfr-related craniosynostosis syndromes 32.2 FGFR3 FGFR2 FGFR1
3 craniosynostosis 31.7 TWIST1 RUNX2 RECQL4 MSX2 FGFR3 FGFR2
4 muenke syndrome 31.4 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
5 jackson-weiss syndrome 31.4 FGFR3 FGFR2 FGFR1
6 brachydactyly 31.3 RUNX2 MSX2 FGFR3 COL1A2
7 parietal foramina 31.3 TWIST1 RUNX2 RECQL4 MSX2 IBSP FGFR3
8 synostosis 31.2 TWIST1 RUNX2 RECQL4 MSX2 FGFR3 FGFR2
9 syndromic craniosynostosis 31.2 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
10 exophthalmos 31.2 FGFR3 FGFR2 FGFR1
11 crouzon syndrome 31.1 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
12 radioulnar synostosis 30.9 TWIST1 RECQL4 FGFR3 FGFR2 FGFR1
13 cleft palate, isolated 30.9 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
14 ankylosis 30.8 RUNX2 IBSP FGFR2 FGFR1 BGLAP
15 pfeiffer syndrome 30.7 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
16 apert syndrome 30.3 TWIST2 TWIST1 RUNX2 MSX2 HAND2 FGFR3
17 hydrocephalus 30.2 TWIST1 FGFR3 FGFR2 FGFR1
18 gastric adenocarcinoma 29.8 TWIST1 ROS1 FGFR2 FGFR1 CASP8
19 bone disease 29.4 RUNX2 IBSP FGFR3 FGFR2 FGFR1 CASP8
20 rickets 29.4 IBSP BGLAP ALPP
21 sc phocomelia syndrome 12.7
22 roberts syndrome 12.5
23 sickle cell anemia 12.4
24 sc(1) trait of saliva 12.2
25 robinow-sorauf syndrome 11.9
26 fontaine progeroid syndrome 11.9
27 baller-gerold syndrome 11.7
28 sydenham chorea 11.5
29 rheumatic encephalitis 11.5
30 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.2
31 ptosis 10.9
32 helix syndrome 10.8
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
34 scrapie 10.7
35 intracranial hypertension 10.7
36 hypertelorism 10.6
37 prion disease 10.6
38 isolated plagiocephaly 10.6 TWIST1 FGFR3
39 hemifacial hyperplasia 10.6 FGFR3 FGFR2
40 isolated brachycephaly 10.6 TWIST1 FGFR3
41 encephalopathy 10.6
42 sickle cell disease 10.5
43 familial ovarian cancer 10.5 FGFR2 CASP8
44 strabismus 10.5
45 sensorineural hearing loss 10.5
46 mechanical strabismus 10.5
47 bunion 10.5
48 hemoglobinopathy 10.5
49 partial trisomy distal 4q 10.5 TWIST2 HAND2
50 testicular spermatocytic seminoma 10.5 FGFR3 FGFR2

Graphical network of the top 20 diseases related to Saethre-Chotzen Syndrome:



Diseases related to Saethre-Chotzen Syndrome
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Symptoms & Phenotypes for Saethre-Chotzen Syndrome

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Human phenotypes related to Saethre-Chotzen Syndrome:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
2 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
3 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
4 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
5 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
8 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
9 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
10 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
11 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
12 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
13 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
14 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
15 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
16 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
17 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
18 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
19 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
20 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
21 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
22 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
23 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
24 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
25 narrow internal auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0011386
26 prominent crus of helix 58 31 frequent (33%) Frequent (79-30%) HP:0009899
27 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
28 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
29 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
30 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
31 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
32 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
33 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
34 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
35 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
36 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
37 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
38 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
39 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
40 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
41 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
42 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
43 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
44 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
45 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
46 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
47 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
48 proximal radio-ulnar synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005037
49 intellectual disability 31 occasional (7.5%) HP:0001249
50 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
buphthalmos
shallow orbits
more
Head And Neck Mouth:
narrow palate
cleft palate

Growth Height:
short stature

Head And Neck Head:
brachycephaly
acrocephaly

Skeletal Limbs:
radioulnar synostosis

Cardiovascular Heart:
congenital heart defect

Cardiovascular Vascular:
intracranial hypertension due to multisutural cranial fusion

Neoplasia:
increased risk of breast cancer in women

Head And Neck Ears:
low-set ears
long and prominent ear crus
small ears
apical cartilage deformity
deafness

Skeletal Hands:
brachydactyly
syndactyly, mild (often 2nd-3rd fingers)
bifid terminal phalanges (digits 2 and 3)
fifth finger clinodactyly

Skeletal Feet:
hallux valgus
absent first metatarsal
syndactyly (often 3rd-4th toes)

Head And Neck Face:
flat face
facial asymmetry
maxillary hypoplasia
high, flat forehead
low frontal hairline

Skeletal Skull:
parietal foramina
acrocephaly
late closing fontanelles
craniosynostosis of coronal, lambdoid, and/or metopic sutures

Head And Neck Nose:
thin, long, pointed nose
beaked nose

Skeletal Pelvis:
small ilia
large ischia

Clinical features from OMIM:

101400

GenomeRNAi Phenotypes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.36 ACSL3 ALPP BGLAP CASP2 CASP8 FGFR2
2 Condensed cis-Golgi GR00365-A 9.26 ALPP FGFR1 FGFR2 ROS1

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 CASP2 CASP8 CBL COL1A2 FERD3L FGFR1
2 growth/size/body region MP:0005378 10.3 ACSL3 CASP8 CBL COL1A2 FGFR1 FGFR2
3 craniofacial MP:0005382 10.25 CBL FGFR1 FGFR2 FGFR3 HAND2 IBSP
4 cardiovascular system MP:0005385 10.24 CASP8 CBL COL1A2 FGFR1 FGFR2 HAND2
5 hematopoietic system MP:0005397 10.22 ACSL3 CASP2 CASP8 CBL FGFR1 FGFR2
6 digestive/alimentary MP:0005381 10.19 FGFR1 FGFR2 FGFR3 HAND2 IBSP MSX2
7 endocrine/exocrine gland MP:0005379 10.18 CASP2 CASP8 CBL FGFR1 FGFR2 HAND2
8 immune system MP:0005387 10.18 ACSL3 CASP2 CASP8 CBL FGFR1 FGFR2
9 limbs/digits/tail MP:0005371 10.03 CBL COL1A2 FGFR1 FGFR2 FGFR3 HAND2
10 integument MP:0010771 10.02 CASP8 CBL COL1A2 FGFR1 FGFR2 FGFR3
11 hearing/vestibular/ear MP:0005377 9.98 CBL FGFR1 FGFR2 FGFR3 HAND2 MSX2
12 mortality/aging MP:0010768 9.97 CASP2 CASP8 CBL COL1A2 FGFR1 FGFR2
13 muscle MP:0005369 9.65 CASP8 CBL COL1A2 FGFR1 FGFR2 HAND2
14 skeleton MP:0005390 9.4 CBL COL1A2 FGFR1 FGFR2 FGFR3 HAND2
Sources

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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Drugs for Saethre-Chotzen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
2
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Anti-Infective Agents Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Anti-Bacterial Agents Phase 4
7 Antifungal Agents Phase 4
8 Immunosuppressive Agents Phase 4
9 Immunologic Factors Phase 4
10
Melatonin Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 73-31-4 896
11 Antioxidants Phase 2, Phase 3
12 Protective Agents Phase 2, Phase 3
13 Central Nervous System Depressants Phase 2, Phase 3
14
Ticagrelor Approved 274693-27-5 9871419
15
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
16 Platelet Aggregation Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Late Clinical Events After Drug-eluting Versus Bare-metal Stents in Patients at Risk: BAsel Stent Kosten Effektivitäts Trial - PROspective Validation Examination Part II (BASKET-PROVE II) Completed NCT01166685 Phase 4
2 The Effect of MElatonin on Depression, Anxiety, CIrcadian and Sleep Disturbances in Patients After Acute Myocardial Syndrome Completed NCT02451293 Phase 2, Phase 3 Melatonin (N-acetyl-5-methoxytryptamine);Placebo
3 Future Optimal Research and Care Evaluation: On the Way to "Personalized Medicine" With an Ongoing Registry of Patients in Daily Clinical Practice (Hart Beter/ FORCE-ACS) Recruiting NCT03823547
4 Evaluation of High Sensitivity Troponin I (hsTnI) in the Management of Patients With Chest Pain in the Emergency Department Active, not recruiting NCT02789904
5 Multimodality Investigation of Intermediate Culprit Lesion With Negative Fractional Flow Reserve in Patients With no ST-segment Elevation Acute Coronary Syndrome. Active, not recruiting NCT03205514

Search NIH Clinical Center for Saethre-Chotzen Syndrome

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Genetic Tests for Saethre-Chotzen Syndrome

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Genetic tests related to Saethre-Chotzen Syndrome:

# Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome 29 FGFR2 TWIST1
Sources

Anatomical Context for Saethre-Chotzen Syndrome

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The Foundational Model of Anatomy Ontology organs/tissues related to Saethre-Chotzen Syndrome:

19
Skull

MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

40
Bone, Heart, Eye, Skin, Brain, Breast, Lung
Sources

Publications for Saethre-Chotzen Syndrome

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Articles related to Saethre-Chotzen Syndrome:

(show top 50) (show all 305)
# Title Authors PMID Year
1
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 54 61 24 56 6
9585583 1998
2
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 54 61 24 56 6
8988166 1997
3
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. 61 24 56 6
11977182 2002
4
Another TWIST on Baller-Gerold syndrome. 54 61 24 6
11754069 2001
5
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 54 61 24 56
8988167 1997
6
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 61 24 56
16251895 2006
7
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 61 24 6
9934984 1999
8
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. 56 6
8968762 1996
9
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. 54 61 6
11248247 2001
10
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 54 61 6
10094188 1999
11
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 54 61 56
9792856 1998
12
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. 54 61 6
9259286 1997
13
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 24 6
9042914 1997
14
Saethre-Chotzen syndrome: a case report. 54 61 24
19860490 2010
15
Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis. 54 61 24
17786117 2007
16
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. 61 56
17437280 2007
17
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 54 61 24
15923834 2005
18
Deletion of the TWIST gene in a large five-generation family. 54 61 24
15099347 2004
19
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 54 61 24
14513358 2003
20
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. 54 61 24
12791045 2003
21
Saethre-Chotzen Syndrome 61 6
20301368 2003
22
Genetic analysis of patients with the Saethre-Chotzen phenotype. 61 56
12116251 2002
23
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. 54 61 24
11772178 2002
24
A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. 61 56
9792855 1998
25
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. 54 61 24
9580658 1998
26
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. 61 6
9279764 1997
27
Possible genetic heterogeneity in the Saethre-Chotzen syndrome. 61 56
8698349 1996
28
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. 61 6
8723106 1996
29
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. 61 56
7783164 1995
30
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. 61 56
7977380 1994
31
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. 61 56
7987323 1994
32
Saethre-Chotzen syndrome. 61 56
8064818 1994
33
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. 61 56
8188211 1994
34
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. 61 56
8266989 1993
35
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. 61 56
1433226 1992
36
Saethre-Chotzen syndrome (ACS III) in four generations. 61 56
1756600 1991
37
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? 61 56
2769726 1989
38
A family with the Saethre-Chotzen syndrome. 61 56
4073118 1985
39
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. 61 56
7450776 1980
40
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. 61 56
862213 1977
41
The Saethre-Chotzen syndrome. 61 56
4643612 1972
42
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 61 24
25271085 2015
43
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. 61 24
26114524 2015
44
Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster. 61 24
22570644 2011
45
Pivotal role of Twist in skeletal biology and pathology. 61 24
20696219 2010
46
Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. 61 24
19913472 2010
47
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. 61 24
19952666 2009
48
The frequency of palatal anomalies in Saethre-Chotzen syndrome. 61 24
19642760 2009
49
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. 6
19215249 2009
50
Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure. 61 24
18471809 2008
Sources

Variations for Saethre-Chotzen Syndrome

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ClinVar genetic disease variations for Saethre-Chotzen Syndrome:

6 (show top 50) (show all 112) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWIST1 NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)duplication Pathogenic 7973 rs121909186 7:19156636-19156637 7:19117013-19117014
2 TWIST1 NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro)SNV Pathogenic 7974 rs104894057 7:19156589-19156589 7:19116966-19116966
3 TWIST1 NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter)SNV Pathogenic 7975 rs104894054 7:19156636-19156636 7:19117013-19117013
4 TWIST1 NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter)SNV Pathogenic 7976 rs121909187 7:19156577-19156577 7:19116954-19116954
5 TWIST1 NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)SNV Pathogenic 7977 rs121909188 7:19156569-19156569 7:19116946-19116946
6 TWIST1 NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro)SNV Pathogenic 7978 rs121909189 7:19156553-19156553 7:19116930-19116930
7 TWIST1 TWIST1, 21-BP DUPduplication Pathogenic 7979
8 TWIST1 NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)SNV Pathogenic 7980 rs104894058 7:19156404-19156404 7:19116781-19116781
9 TWIST1 NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)SNV Pathogenic 7982 rs104894059 7:19156479-19156479 7:19116856-19116856
10 FGFR2 NM_022970.3(FGFR2):c.1087+1304G>ASNV Pathogenic 13263 rs121918487 10:123276892-123276892 10:121517378-121517378
11 FGFR2 NM_022970.3(FGFR2):c.1087+1311G>ASNV Pathogenic 13268 rs121918491 10:123276885-123276885 10:121517371-121517371
12 FGFR2 NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp)SNV Pathogenic 13272 rs79184941 10:123279677-123279677 10:121520163-121520163
13 FGFR2 NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg)SNV Pathogenic 13273 rs77543610 10:123279674-123279674 10:121520160-121520160
14 FGFR2 NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys)SNV Pathogenic 13277 rs121913478 10:123274794-123274794 10:121515280-121515280
15 FGFR2 NM_022970.3(FGFR2):c.804_809del (p.Val269_Val270del)deletion Pathogenic 13285 rs879253718 10:123279623-123279628 10:121520109-121520114
16 FGFR3 NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
17 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys)SNV Pathogenic 449024 rs1434545235 10:123325014-123325014 10:121565500-121565500
18 TWIST1 NC_000007.13:g.(?_19156316)_(19156964_?)deldeletion Pathogenic 458685 7:19116693-19117341
19 TWIST1 NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)duplication Pathogenic 458686 rs1554441989 7:19156527-19156528 7:19116904-19116905
20 FGFR2 NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg)SNV Pathogenic 478046 rs1554927408 10:123274768-123274768 10:121515254-121515254
21 TWIST1 NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)deletion Pathogenic 543077 rs1554442082 7:19156803-19156813 7:19117180-19117190
22 TWIST1 NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)duplication Pathogenic 543075 rs1554441991 7:19156528-19156529 7:19116905-19116906
23 TWIST1 NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)duplication Pathogenic 567420 rs1563159980 7:19156526-19156527 7:19116903-19116904
24 TWIST1 NM_000474.4(TWIST1):c.90_111del (p.Lys33fs)deletion Pathogenic 573378 rs1563160337 7:19156834-19156855 7:19117211-19117232
25 TWIST1 NM_000474.4(TWIST1):c.277dup (p.Ser93fs)duplication Pathogenic 648741 7:19156667-19156668 7:19117044-19117045
26 TWIST1 NM_000474.4(TWIST1):c.197del (p.Pro66fs)deletion Pathogenic 645450 7:19156748-19156748 7:19117125-19117125
27 TWIST1 NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)duplication Pathogenic 642695 7:19156869-19156870 7:19117246-19117247
28 TWIST1 NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)deletion Pathogenic 691563 7:19156638-19156639 7:19117015-19117016
29 TWIST1 NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)SNV Pathogenic/Likely pathogenic 575739 rs1563160116 7:19156644-19156644 7:19117021-19117021
30 FGFR2 NM_022970.3(FGFR2):c.1087+1292G>ASNV Pathogenic/Likely pathogenic 374817 rs1057519044 10:123276904-123276904 10:121517390-121517390
31 TWIST1 NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly)SNV Likely pathogenic 438352 rs1554442015 7:19156593-19156593 7:19116970-19116970
32 TWIST1 NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)SNV Likely pathogenic 476634 rs1554441995 7:19156550-19156550 7:19116927-19116927
33 TWIST1 NM_000474.4(TWIST1):c.408dup (p.Thr137fs)duplication Likely pathogenic 543076 rs1554441993 7:19156536-19156537 7:19116913-19116914
34 TWIST1 NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly)SNV Likely pathogenic 543078 rs1554442019 7:19156599-19156599 7:19116976-19116976
35 TWIST1 NM_000474.4(TWIST1):c.400_420dup (p.Ile134_Ser140dup)duplication Likely pathogenic 694504 7:19156524-19156525 7:19116901-19116902
36 TWIST1 NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)SNV Conflicting interpretations of pathogenicity 426307 rs1085307555 7:19156616-19156616 7:19116993-19116993
37 TWIST1 NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)SNV Conflicting interpretations of pathogenicity 235255 rs878852992 7:19156851-19156851 7:19117228-19117228
38 FGFR2 NM_022970.3(FGFR2):c.*1402T>CSNV Uncertain significance 298976 rs886046758 10:123237969-123237969 10:121478455-121478455
39 FGFR2 NM_022970.3(FGFR2):c.*1369C>TSNV Uncertain significance 298977 rs886046759 10:123238002-123238002 10:121478488-121478488
40 FGFR2 NM_022970.3(FGFR2):c.-128G>ASNV Uncertain significance 299013 rs547739869 10:123353459-123353459 10:121593945-121593945
41 FGFR2 NM_022970.3(FGFR2):c.-535G>CSNV Uncertain significance 299025 rs886046767 10:123357860-123357860 10:121598346-121598346
42 FGFR2 NM_022970.3(FGFR2):c.*1126T>CSNV Uncertain significance 298981 rs370106008 10:123238245-123238245 10:121478731-121478731
43 FGFR2 NM_022970.3(FGFR2):c.*736dupduplication Uncertain significance 298984 rs886046762 10:123238634-123238635 10:121479120-121479121
44 FGFR2 NM_022970.3(FGFR2):c.1565-11A>GSNV Uncertain significance 299000 rs41293744 10:123258130-123258130 10:121498616-121498616
45 FGFR2 NM_022970.3(FGFR2):c.1542C>A (p.Thr514=)SNV Uncertain significance 299002 rs74160617 10:123260362-123260362 10:121500848-121500848
46 FGFR2 NM_022970.3(FGFR2):c.1182A>T (p.Val394=)SNV Uncertain significance 299004 rs886046763 10:123274739-123274739 10:121515225-121515225
47 FGFR2 NM_022970.3(FGFR2):c.351T>C (p.Thr117=)SNV Uncertain significance 299008 rs886046764 10:123324977-123324977 10:121565463-121565463
48 FGFR2 NM_022970.3(FGFR2):c.*1489C>TSNV Uncertain significance 298975 rs886046757 10:123237882-123237882 10:121478368-121478368
49 FGFR2 NM_022970.3(FGFR2):c.*674G>TSNV Uncertain significance 298985 rs566155088 10:123238697-123238697 10:121479183-121479183
50 FGFR2 NM_022970.3(FGFR2):c.*497T>CSNV Uncertain significance 298987 rs3135827 10:123238874-123238874 10:121479360-121479360

UniProtKB/Swiss-Prot genetic disease variations for Saethre-Chotzen Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TWIST1 p.Gln119Pro VAR_004495 rs104894057
2 TWIST1 p.Leu131Pro VAR_004496 rs121909189
3 TWIST1 p.Ile156Val VAR_015219 rs104894059

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Expression for Saethre-Chotzen Syndrome

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Search GEO for disease gene expression data for Saethre-Chotzen Syndrome.
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Pathways for Saethre-Chotzen Syndrome

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Pathways related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.79 IBSP FGFR3 FGFR2 FGFR1 COL1A2 CASP8
2
Pathways in cancer 36
12.69 FGFR3 FGFR2 FGFR1 CBL CASP8
3
MAPK signaling pathway 36 1
12.61 FGFR3 FGFR2 FGFR1 CASP8 CASP2
4
Apoptosis Pathway 70
Show member pathways
 12.31 FGFR3 FGFR2 FGFR1 CASP8
5
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.25 ROS1 FGFR3 FGFR2 FGFR1 CBL
6
Development FGFR signaling pathway 22
Show member pathways
 12.22 FGFR3 FGFR2 FGFR1 CBL
7
Signaling by FGFR2 65
Show member pathways
 12.08 FGFR3 FGFR2 FGFR1 CBL
8
Proteoglycans in cancer 36
12.03 TWIST2 TWIST1 FGFR1 COL1A2 CBL
9
Tyrosine Kinases / Adaptors 4
11.82 ROS1 FGFR3 FGFR2 FGFR1 CBL
10
Parathyroid hormone synthesis, secretion and action 36
11.81 RUNX2 FGFR1 BGLAP
11
Angiogenesis (CST) 4
11.7 FGFR3 FGFR2 FGFR1
12
Central carbon metabolism in cancer 36
11.55 FGFR3 FGFR2 FGFR1
13
Endochondral Ossification 1
11.51 RUNX2 FGFR3 FGFR1
14
Neural Crest Differentiation 1
11.36 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
15
Notch-mediated HES/HEY network 1
11.31 TWIST1 RUNX2 BGLAP
16
Alzheimers Disease Pathway 63
11.26 FGFR3 FGFR2 FGFR1
17
Interleukin-11 Signaling Pathway 1
11.22 RUNX2 IBSP BGLAP
18
Vemurafenib Pathway, Pharmacodynamics 60
11.18 FGFR3 FGFR2 FGFR1
19
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.05 RUNX2 IBSP COL1A2 BGLAP
20
G-protein signaling_Rap2B regulation pathway 22
10.89 ROS1 FGFR3 FGFR2 FGFR1 COL1A2
21
Osteoblast Signaling 1
10.74 IBSP BGLAP
22
FGF signaling pathway 1
10.69 RUNX2 FGFR2 FGFR1 CBL BGLAP
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GO Terms for Saethre-Chotzen Syndrome

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Cellular components related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.92 ROS1 FGFR3 FGFR2 FGFR1

Biological processes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 10.07 TWIST2 TWIST1 RUNX2 MSX2 FERD3L
2 negative regulation of apoptotic process GO:0043066 10.05 TWIST2 TWIST1 MSX2 HAND2 CBL CASP2
3 in utero embryonic development GO:0001701 9.96 TWIST1 HAND2 FGFR2 FGFR1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.89 ROS1 FGFR3 FGFR2 FGFR1
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.83 ROS1 FGFR3 FGFR2 FGFR1
6 bone development GO:0060348 9.82 TWIST1 FGFR2 BGLAP
7 embryonic digit morphogenesis GO:0042733 9.82 TWIST1 MSX2 HAND2
8 embryonic limb morphogenesis GO:0030326 9.81 TWIST1 MSX2 FGFR1
9 response to ethanol GO:0045471 9.81 FGFR2 CBL CASP8 BGLAP
10 negative regulation of osteoblast differentiation GO:0045668 9.8 TWIST2 TWIST1 HAND2
11 skeletal system morphogenesis GO:0048705 9.8 RUNX2 FGFR2 FGFR1
12 ossification GO:0001503 9.78 TWIST1 RUNX2 MSX2 BGLAP
13 chondrocyte differentiation GO:0002062 9.77 RUNX2 FGFR3 FGFR1
14 skeletal system development GO:0001501 9.77 RUNX2 FGFR3 FGFR1 COL1A2 BGLAP
15 bone morphogenesis GO:0060349 9.76 MSX2 FGFR3 FGFR2
16 embryonic cranial skeleton morphogenesis GO:0048701 9.74 TWIST1 RUNX2 FGFR2
17 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGFR3 FGFR2 FGFR1 CBL
18 embryonic forelimb morphogenesis GO:0035115 9.71 TWIST1 RUNX2 MSX2
19 cellular response to growth factor stimulus GO:0071363 9.71 TWIST1 MSX2 IBSP BGLAP
20 positive regulation of transcription regulatory region DNA binding GO:2000679 9.68 TWIST1 HAND2
21 regulation of osteoblast differentiation GO:0045667 9.67 RUNX2 FGFR2
22 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGFR2 FGFR1
23 mesenchymal cell differentiation GO:0048762 9.66 FGFR2 FGFR1
24 outer ear morphogenesis GO:0042473 9.65 TWIST1 FGFR1
25 lung-associated mesenchyme development GO:0060484 9.65 FGFR2 FGFR1
26 cranial suture morphogenesis GO:0060363 9.63 TWIST1 MSX2
27 osteoblast development GO:0002076 9.63 RUNX2 MSX2 BGLAP
28 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.62 TWIST1 HAND2
29 orbitofrontal cortex development GO:0021769 9.61 FGFR2 FGFR1
30 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.61 TWIST1 HAND2
31 ventricular zone neuroblast division GO:0021847 9.56 FGFR2 FGFR1
32 regulation of phosphate transport GO:0010966 9.55 ROS1 FGFR1
33 osteoblast differentiation GO:0001649 9.55 TWIST1 RUNX2 MSX2 IBSP BGLAP
34 positive regulation of phospholipase activity GO:0010518 9.5 FGFR3 FGFR2 FGFR1
35 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.49 FGFR2 FGFR1
36 endochondral bone growth GO:0003416 9.43 MSX2 FGFR3 FGFR2
37 bone mineralization GO:0030282 9.35 IBSP FGFR3 FGFR2 COL1A2 BGLAP
38 odontogenesis GO:0042476 9.02 TWIST1 MSX2 FGFR2 COL1A2 BGLAP

Molecular functions related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.67 TWIST1 RUNX2 CASP2 ACSL3
2 protein dimerization activity GO:0046983 9.62 TWIST2 TWIST1 HAND2 FERD3L
3 protein tyrosine kinase activity GO:0004713 9.56 ROS1 FGFR3 FGFR2 FGFR1
4 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.4 CASP8 CASP2
5 fibroblast growth factor binding GO:0017134 9.33 FGFR3 FGFR2 FGFR1
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 ROS1 FGFR3 FGFR2 FGFR1
7 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1
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Sources for Saethre-Chotzen Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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