SCS
MCID: STH001
MIFTS: 65

Saethre-Chotzen Syndrome (SCS)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Saethre-Chotzen Syndrome

MalaCards integrated aliases for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 57 11 24 19 42 58 75 73 28 53 5 14 71
Acs3 57 19 42 58 73
Scs 57 19 42 58 73
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 57 19 42
Acrocephalosyndactyly Type 3 19 58 73
Chotzen Syndrome 57 19 42
Acs Iii 57 42 73
Acrocephalosyndactyly, Type Iii 57 42
Acrocephalosyndactyly Type Iii 11 24
Saethre-Chotzen Syndrome with or Without Eyelid Anomalies 57
Saethre-Chotzen Syndrome, with/without Eyelid Anomalies 38
Blepharophimosis,epicanthus Inversus, and Ptosis 3 19
Dysostosis Craniofacialis with Hypertelorism 42
Acrocephalo-Syndactyly, Type 3 19
Kurczynski-Casperson Syndrome 19
Acrocephalosyndactyly Iii 42
Aural Cephalosyndactyly 19
Auralcephalosyndactyly 19
Sakati Syndrome 71
Acs 3 19

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Europe, Europe) 58

Age Of Onset:

Antenatal,Neonatal 58

Age Of Death:

normal life expectancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
few patients with mild to moderate mental retardation
variable expressivity
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, )


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:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Saethre-Chotzen Syndrome

MedlinePlus Genetics: 42 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, rounded ears.The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild changes in the hands and feet, such as partial 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 variant of Saethre-Chotzen syndrome.

MalaCards based summary: Saethre-Chotzen Syndrome, also known as acs3, is related to hemifacial hyperplasia and chromosome 2q35 duplication syndrome. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are PAK Pathway and Signaling by Receptor Tyrosine Kinases. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include skull, bone and eye, and related phenotypes are clinodactyly of the 5th finger and facial asymmetry

OMIM®: 57 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) (Updated 24-Oct-2022)

GARD: 19 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. Genetic changes (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 genetic change from one affected parent. Other cases may result from new genetic changes in the gene.

Orphanet: 58 A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.

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

Disease Ontology: 11 An acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull.

Wikipedia: 75 Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital... more...

GeneReviews: NBK1189

Related Diseases for Saethre-Chotzen Syndrome

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

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 hemifacial hyperplasia 31.5 FGFR3 FGFR2 EFNB1
2 chromosome 2q35 duplication syndrome 31.3 MSX2 HAND2 FGFR3 FGFR2 FGFR1 EFNB1
3 hypertelorism 31.3 TWIST1 FGFR2 EFNB1
4 parietal foramina 31.1 TWIST1 RUNX2 MSX2 IBSP FGFR3
5 muenke syndrome 31.0 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
6 plagiocephaly 31.0 FGFR3 FGFR2 FGFR1
7 synostosis 30.9 TWIST1 TCF12 RUNX2 RECQL4 MSX2 FGFR3
8 craniosynostosis 30.9 TWIST2 TWIST1 TCF12 RUNX2 RECQL4 MSX2
9 pfeiffer syndrome 30.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
10 apert syndrome 30.8 TWIST2 TWIST1 TCF12 RUNX2 MSX2 HAND2
11 sweeney-cox syndrome 30.7 TWIST2 TWIST1 CFAP47
12 jackson-weiss syndrome 30.6 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
13 hypophosphatemia 30.6 FGFR2 FGFR1 BGLAP
14 ankylosis 30.5 RUNX2 IBSP FGFR2 FGFR1 BGLAP
15 hydrocephalus 30.5 FGFR3 FGFR2 FGFR1 CFAP47
16 cleft palate, isolated 30.5 TWIST1 RUNX2 MSX2 IBSP HAND2 FGFR3
17 crouzon syndrome 30.5 TWIST1 TCF12 RUNX2 MSX2 FGFR3 FGFR2
18 scoliosis 30.4 RUNX2 FGFR3 FGFR2 FGFR1 BGLAP
19 osteochondrodysplasia 30.3 RUNX2 MSX2 IBSP FGFR3 FGFR2 FGFR1
20 baller-gerold syndrome 11.5
21 robinow-sorauf syndrome 11.4
22 ptosis 10.8
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
24 helix syndrome 10.7
25 intracranial hypertension 10.5
26 syndromic craniosynostosis 10.5
27 cone-rod dystrophy 2 10.5
28 craniosynostosis 1 10.4
29 strabismus 10.4
30 brachydactyly 10.4
31 sensorineural hearing loss 10.4
32 bunion 10.4
33 non-syndromic bicoronal craniosynostosis 10.4 TWIST1 TCF12 FGFR3
34 partial trisomy distal 4q 10.4 TWIST2 HAND2
35 paresthesia 10.4
36 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
37 chronic pain 10.3
38 parietal foramina with cleidocranial dysplasia 10.3 RUNX2 MSX2
39 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.3 FGFR3 FGFR2 FGFR1
40 osteoglophonic dysplasia 10.3 FGFR3 FGFR2 FGFR1
41 exposure keratitis 10.3 TCF12 FGFR2 EFNB1
42 hypochondroplasia 10.3 FGFR3 FGFR2 FGFR1
43 antley-bixler syndrome 10.3 FGFR3 FGFR2 FGFR1
44 lacrimoauriculodentodigital syndrome 10.3 FGFR3 FGFR2 FGFR1
45 dental pulp necrosis 10.3 RUNX2 IBSP BGLAP
46 tooth resorption 10.3 RUNX2 IBSP BGLAP
47 periapical periodontitis 10.3 RUNX2 IBSP BGLAP
48 dental pulp disease 10.3 RUNX2 IBSP BGLAP
49 nevus, epidermal 10.3 FGFR3 FGFR2 FGFR1
50 bladder transitional cell papilloma 10.3 FGFR3 CASP2

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



Diseases related to Saethre-Chotzen Syndrome

Symptoms & Phenotypes for Saethre-Chotzen Syndrome

Human phenotypes related to Saethre-Chotzen Syndrome:

58 30 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
2 facial asymmetry 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000324
3 high forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000348
4 craniosynostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001363
5 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
6 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
7 hyperlordosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003307
8 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
9 narrow palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000189
10 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
11 open bite 58 30 Frequent (33%) Frequent (79-30%)
HP:0010807
12 microtia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008551
13 brachycephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000248
14 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
15 external ear malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008572
16 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
17 bilateral single transverse palmar creases 58 30 Frequent (33%) Frequent (79-30%)
HP:0007598
18 low anterior hairline 58 30 Frequent (33%) Frequent (79-30%)
HP:0000294
19 prominent nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000426
20 convex nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000444
21 blepharospasm 58 30 Frequent (33%) Frequent (79-30%)
HP:0000643
22 narrow internal auditory canal 58 30 Frequent (33%) Frequent (79-30%)
HP:0011386
23 delayed cranial suture closure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000270
24 plagiocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001357
25 prominent crus of helix 58 30 Frequent (33%) Frequent (79-30%)
HP:0009899
26 abnormal antihelix morphology 30 Frequent (33%) HP:0009738
27 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
28 sleep apnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010535
29 increased intracranial pressure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002516
30 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
31 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
32 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
33 broad thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011304
34 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
35 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
36 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
37 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
38 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
39 conductive hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000405
40 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
41 intellectual disability, moderate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002342
42 hallux valgus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001822
43 migraine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002076
44 hypotelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000601
45 triphalangeal thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001199
46 hypoplasia of the maxilla 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000327
47 proximal radio-ulnar synostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005037
48 intellectual disability 30 Occasional (7.5%) HP:0001249
49 abnormality of cardiovascular system morphology 30 Occasional (7.5%) HP:0030680
50 seizure 30 Occasional (7.5%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
buphthalmos
shallow orbits
more
Growth Height:
short stature

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

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

Skeletal Limbs:
radioulnar synostosis

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

Cardiovascular Vascular:
intracranial hypertension due to multisutural cranial fusion

Neoplasia:
increased risk of breast cancer in women

Head And Neck Mouth:
narrow palate
cleft palate

Head And Neck Head:
brachycephaly
acrocephaly

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

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

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

Cardiovascular Heart:
congenital heart defect

Skeletal Pelvis:
small ilia
large ischia

Clinical features from OMIM®:

101400 (Updated 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 ACSL3 BGLAP CASP2 CASP8 CBL CFAP47
2 no effect GR00402-S-2 10.19 ACSL3 BGLAP CASP2 CASP8 CBL CFAP47
3 shRNA abundance <= 50% GR00343-S 9.5 ACSL3 BGLAP CASP8 FGFR3 RUNX2 TCF3

MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 ACSL3 CASP8 CBL EFNB1 FGFR1 FGFR2
2 nervous system MP:0003631 10.4 CASP2 CASP8 EFNB1 FERD3L FGFR1 FGFR2
3 limbs/digits/tail MP:0005371 10.35 CBL EFNB1 FGFR1 FGFR2 FGFR3 HAND2
4 endocrine/exocrine gland MP:0005379 10.34 BGLAP CASP2 CASP8 CBL EFNB1 FGFR1
5 cellular MP:0005384 10.31 BGLAP CASP2 CASP8 CBL CFAP47 EFNB1
6 immune system MP:0005387 10.3 ACSL3 BGLAP CASP2 CASP8 CBL EFNB1
7 craniofacial MP:0005382 10.21 CBL EFNB1 FGFR1 FGFR2 FGFR3 HAND2
8 muscle MP:0005369 10.2 CASP8 CBL FGFR1 FGFR2 HAND2 MSX2
9 digestive/alimentary MP:0005381 10.2 EFNB1 FGFR1 FGFR2 FGFR3 HAND2 IBSP
10 embryo MP:0005380 10.18 CASP8 EFNB1 FERD3L FGFR1 FGFR2 HAND2
11 hearing/vestibular/ear MP:0005377 10.13 CBL EFNB1 FGFR1 FGFR2 FGFR3 HAND2
12 no phenotypic analysis MP:0003012 10.11 EFNB1 FGFR1 FGFR2 FGFR3 HAND2 RUNX2
13 hematopoietic system MP:0005397 10.09 ACSL3 BGLAP CASP2 CASP8 CBL EFNB1
14 skeleton MP:0005390 10.07 BGLAP CBL EFNB1 FGFR1 FGFR2 FGFR3
15 reproductive system MP:0005389 10.06 BGLAP CASP2 CBL CFAP47 EFNB1 FGFR1
16 mortality/aging MP:0010768 9.83 CASP2 CASP8 CBL EFNB1 FGFR1 FGFR2
17 integument MP:0010771 9.36 CASP8 CBL EFNB1 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 29936

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
2 TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study Recruiting NCT05522374

Search NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

Genetic tests related to Saethre-Chotzen Syndrome:

# Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome 28 FGFR2 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

Organs/tissues related to Saethre-Chotzen Syndrome:

FMA: Skull
MalaCards : Bone, Eye, Heart, Skin, Breast, Brain, Spinal Cord

Publications for Saethre-Chotzen Syndrome

Articles related to Saethre-Chotzen Syndrome:

(show top 50) (show all 406)
# Title Authors PMID Year
1
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 53 62 24 57 5
9585583 1998
2
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 53 62 24 57 5
8988167 1997
3
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 53 62 24 57 5
8988166 1997
4
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 53 62 57 5
9792856 1998
5
Genetic analysis of patients with the Saethre-Chotzen phenotype. 62 57 5
12116251 2002
6
Another TWIST on Baller-Gerold syndrome. 53 62 24 5
11754069 2001
7
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 62 24 5
25271085 2015
8
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis. 62 24 5
26114524 2015
9
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 62 24 57
16251895 2006
10
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. 62 24 57
11977182 2002
11
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. 62 24 5
10749989 2000
12
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 62 24 5
9934984 1999
13
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24 5
24127277 2013
14
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. 53 62 5
11248247 2001
15
Mutations in the human TWIST gene. 53 62 5
10649491 2000
16
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 53 62 5
10094188 1999
17
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. 53 62 5
9259286 1997
18
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 24 5
9042914 1997
19
Saethre-Chotzen syndrome: a case report. 53 62 24
19860490 2010
20
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 62 5
19373776 2009
21
Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis. 53 62 24
17786117 2007
22
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. 62 57
17437280 2007
23
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. 53 62 24
15923834 2005
24
Deletion of the TWIST gene in a large five-generation family. 53 62 24
15099347 2004
25
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 53 62 24
14513358 2003
26
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. 53 62 24
12791045 2003
27
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. 53 62 24
11772178 2002
28
A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. 62 57
9792855 1998
29
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. 53 62 24
9580658 1998
30
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. 62 5
9279764 1997
31
Possible genetic heterogeneity in the Saethre-Chotzen syndrome. 62 57
8698349 1996
32
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. 62 5
8723106 1996
33
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. 62 57
7783164 1995
34
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. 62 57
7977380 1994
35
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. 62 57
7987323 1994
36
Saethre-Chotzen syndrome. 62 57
8064818 1994
37
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. 62 57
8188211 1994
38
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. 62 57
8266989 1993
39
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. 62 57
1433226 1992
40
Saethre-Chotzen syndrome (ACS III) in four generations. 62 57
1756600 1991
41
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? 62 57
2769726 1989
42
Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. 62 57
2845086 1988
43
A family with the Saethre-Chotzen syndrome. 62 57
4073118 1985
44
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. 62 57
7450776 1980
45
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. 62 57
862213 1977
46
The Saethre-Chotzen syndrome. 62 57
4643612 1972
47
Acrocephalosyndactyly type 3: Chotzen's syndrome. 62 57
4393456 1970
48
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing. 5
31754721 2020
49
NGS targeted screening of 100 Scandinavian patients with coronal synostosis. 5
31837199 2020
50
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 5
22382802 2012

Variations for Saethre-Chotzen Syndrome

ClinVar genetic disease variations for Saethre-Chotzen Syndrome:

5 (show top 50) (show all 202)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TWIST1 NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) DUP Pathogenic
7973 rs121909186 GRCh37: 7:19156636-19156637
GRCh38: 7:19117013-19117014
2 TWIST1 NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) SNV Pathogenic
7974 rs104894057 GRCh37: 7:19156589-19156589
GRCh38: 7:19116966-19116966
3 TWIST1 NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) SNV Pathogenic
Pathogenic
7975 rs104894054 GRCh37: 7:19156636-19156636
GRCh38: 7:19117013-19117013
4 TWIST1 NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro) SNV Pathogenic
7978 rs121909189 GRCh37: 7:19156553-19156553
GRCh38: 7:19116930-19116930
5 TWIST1 TWIST1, 21-BP DUP DUP Pathogenic
7979 GRCh37:
GRCh38:
6 TWIST1 NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) SNV Pathogenic
7980 rs104894058 GRCh37: 7:19156404-19156404
GRCh38: 7:19116781-19116781
7 TWIST1 NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) SNV Pathogenic
7982 rs104894059 GRCh37: 7:19156479-19156479
GRCh38: 7:19116856-19116856
8 FGFR2 NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) DEL Pathogenic
13285 rs879253718 GRCh37: 10:123279623-123279628
GRCh38: 10:121520109-121520114
9 TWIST1 NC_000007.14:g.(?_19116693)_(19117341_?)del DEL Pathogenic
458685 GRCh37: 7:19156316-19156964
GRCh38: 7:19116693-19117341
10 TWIST1 NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs) DEL Pathogenic
691563 rs1585617240 GRCh37: 7:19156638-19156639
GRCh38: 7:19117015-19117016
11 overlap with 21 genes GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1 CN LOSS Pathogenic
981203 GRCh37: 7:14470668-20385165
GRCh38:
12 TWIST1 NC_000007.13:g.(?_19156336)_(19157207_?)del DEL Pathogenic
1357752 GRCh37: 7:19156336-19157207
GRCh38:
13 TWIST1 NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter) SNV Pathogenic
1418275 GRCh37: 7:19156596-19156596
GRCh38: 7:19116973-19116973
14 TWIST1 NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser) SNV Pathogenic
1455499 GRCh37: 7:19156478-19156478
GRCh38: 7:19116855-19116855
15 TWIST1 NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) DUP Pathogenic
567420 rs1563159980 GRCh37: 7:19156526-19156527
GRCh38: 7:19116903-19116904
16 TWIST1 NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) SNV Pathogenic
575739 rs1563160116 GRCh37: 7:19156644-19156644
GRCh38: 7:19117021-19117021
17 TWIST1 NM_000474.4(TWIST1):c.197del (p.Pro66fs) DEL Pathogenic
645450 rs1585617611 GRCh37: 7:19156748-19156748
GRCh38: 7:19117125-19117125
18 TWIST1 NM_000474.4(TWIST1):c.400_420dup (p.Ile134_Ser140dup) DUP Pathogenic
Likely Pathogenic
694504 rs1585616948 GRCh37: 7:19156524-19156525
GRCh38: 7:19116901-19116902
19 TWIST1 NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter) SNV Pathogenic
1458491 GRCh37: 7:19156635-19156635
GRCh38: 7:19117012-19117012
20 TWIST1 NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del) DEL Pathogenic
1164065 GRCh37: 7:19156497-19156508
GRCh38: 7:19116874-19116885
21 TWIST1 NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) SNV Pathogenic
Pathogenic
7976 rs121909187 GRCh37: 7:19156577-19156577
GRCh38: 7:19116954-19116954
22 TWIST1 NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) SNV Pathogenic
Pathogenic
7977 rs121909188 GRCh37: 7:19156569-19156569
GRCh38: 7:19116946-19116946
23 TWIST1 NM_000474.4(TWIST1):c.321dup (p.Thr108fs) DUP Pathogenic
973874 rs1788583845 GRCh37: 7:19156623-19156624
GRCh38: 7:19117000-19117001
24 TWIST1 NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter) SNV Pathogenic
827827 rs1585617015 GRCh37: 7:19156548-19156548
GRCh38: 7:19116925-19116925
25 TWIST1 NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) SNV Pathogenic
476634 rs1554441995 GRCh37: 7:19156550-19156550
GRCh38: 7:19116927-19116927
26 TWIST1 NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) DUP Pathogenic
Pathogenic
458686 rs1554441989 GRCh37: 7:19156527-19156528
GRCh38: 7:19116904-19116905
27 TWIST1 NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) DUP Pathogenic
543075 rs1554441991 GRCh37: 7:19156528-19156529
GRCh38: 7:19116905-19116906
28 TWIST1 NM_000474.4(TWIST1):c.408dup (p.Thr137fs) DUP Pathogenic
543076 rs1554441993 GRCh37: 7:19156536-19156537
GRCh38: 7:19116913-19116914
29 TWIST1 NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) DEL Pathogenic
543077 rs1554442082 GRCh37: 7:19156803-19156813
GRCh38: 7:19117180-19117190
30 TWIST1 NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) DEL Pathogenic
573378 rs1563160337 GRCh37: 7:19156834-19156855
GRCh38: 7:19117211-19117232
31 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic
478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
32 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic
13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
33 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic
13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
34 TWIST1 NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) DUP Pathogenic
642695 rs1585617865 GRCh37: 7:19156869-19156870
GRCh38: 7:19117246-19117247
35 TWIST1 NM_000474.4(TWIST1):c.277dup (p.Ser93fs) DUP Pathogenic
648741 rs1585617402 GRCh37: 7:19156667-19156668
GRCh38: 7:19117044-19117045
36 TWIST1 NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) SNV Pathogenic
652940 rs1233220987 GRCh37: 7:19156587-19156587
GRCh38: 7:19116964-19116964
37 TWIST1 NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) SNV Pathogenic
835124 rs1788579980 GRCh37: 7:19156499-19156499
GRCh38: 7:19116876-19116876
38 TWIST1 NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) SNV Pathogenic
970861 rs1788580326 GRCh37: 7:19156512-19156512
GRCh38: 7:19116889-19116889
39 TWIST1 NM_000474.4(TWIST1):c.54_73del (p.Ser18fs) DEL Pathogenic
1075081 GRCh37: 7:19156872-19156891
GRCh38: 7:19117249-19117268
40 TWIST1 NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter) SNV Pathogenic
1075291 GRCh37: 7:19156358-19156358
GRCh38: 7:19116735-19116735
41 TWIST1 NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter) SNV Pathogenic
7983 rs104894055 GRCh37: 7:19156863-19156863
GRCh38: 7:19117240-19117240
42 TWIST1 NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup) DUP Pathogenic
1457074 GRCh37: 7:19156529-19156530
GRCh38: 7:19116906-19116907
43 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic
13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
44 FGFR2 NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic
449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
45 TWIST1 GRCh37/hg19 7p21.1(chr7:19152100-19157785) CN LOSS Pathogenic
1703561 GRCh37: 7:19152100-19157785
GRCh38:
46 TWIST1 NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) SNV Pathogenic
7984 rs104894065 GRCh37: 7:19156734-19156734
GRCh38: 7:19117111-19117111
47 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
48 TWIST1 NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs) DUP Pathogenic
1451820 GRCh37: 7:19156605-19156606
GRCh38: 7:19116982-19116983
49 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic
13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
50 TWIST1 NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del) MICROSAT Pathogenic
1351855 GRCh37: 7:19156540-19156542
GRCh38: 7:19116917-19116919

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

Expression for Saethre-Chotzen Syndrome

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

Pathways for Saethre-Chotzen Syndrome

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 TCF3 TCF12 FGFR3 FGFR2 FGFR1 CASP8
2 12.68 CBL FGFR1 FGFR2 FGFR3 TCF12
3
Show member pathways
12.53 CASP8 CBL FGFR1 FGFR2 FGFR3
4
Show member pathways
12.43 FGFR3 FGFR2 FGFR1 CBL
5
Show member pathways
12.29 FGFR3 FGFR2 FGFR1 CASP8
6
Show member pathways
12.26 FGFR3 FGFR2 FGFR1 CBL
7
Show member pathways
12.12 FGFR3 FGFR2 FGFR1 CBL
8
Show member pathways
11.89 RUNX2 FGFR3 FGFR1
9 11.82 FGFR3 FGFR2 FGFR1 EFNB1 CBL
10 11.75 RUNX2 MSX2 BGLAP
11
Show member pathways
11.72 FGFR3 FGFR2 FGFR1
12 11.65 FGFR3 FGFR2 FGFR1 EFNB1
13 11.61 FGFR3 FGFR2 FGFR1
14 11.59 FGFR3 FGFR2 FGFR1 CBL
15 11.53 FGFR3 FGFR2 FGFR1 CASP8
17 11.36 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
18 11.32 FGFR3 FGFR2 FGFR1
19 11.3 RUNX2 IBSP BGLAP
20 11.27 FGFR3 FGFR2 FGFR1
21 11.2 RUNX2 IBSP BGLAP
22 11.11 TWIST1 TCF3 RUNX2 BGLAP
23 10.92 FGFR3 FGFR2
24 10.83 RUNX2 FGFR3 FGFR2 FGFR1 CBL BGLAP

GO Terms for Saethre-Chotzen Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulator complex GO:0005667 9.32 HAND2 MSX2 RUNX2 TCF12 TCF3

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.27 TWIST2 TWIST1 TCF3 TCF12 RUNX2 HAND2
2 response to ethanol GO:0045471 10.16 FGFR2 CBL CASP8 BGLAP
3 skeletal system development GO:0001501 10.13 BGLAP FGFR1 FGFR3 RUNX2
4 fibroblast growth factor receptor signaling pathway GO:0008543 10.09 FGFR3 FGFR2 FGFR1
5 negative regulation of osteoblast differentiation GO:0045668 10.08 TWIST2 TWIST1 HAND2
6 bone mineralization GO:0030282 10.06 IBSP FGFR3 FGFR2 BGLAP
7 bone development GO:0060348 10.02 TWIST1 FGFR2 BGLAP
8 embryonic forelimb morphogenesis GO:0035115 10.02 TWIST1 RUNX2 MSX2
9 cellular response to growth factor stimulus GO:0071363 10.02 TWIST1 MSX2 IBSP BGLAP
10 embryonic cranial skeleton morphogenesis GO:0048701 10.01 FGFR2 RUNX2 TWIST1
11 embryonic digit morphogenesis GO:0042733 10 HAND2 MSX2 TWIST1
12 stem cell differentiation GO:0048863 9.98 TWIST1 RUNX2 MSX2 BGLAP
13 skeletal system morphogenesis GO:0048705 9.97 RUNX2 FGFR2 FGFR1
14 osteoblast development GO:0002076 9.97 RUNX2 MSX2 BGLAP
15 bone morphogenesis GO:0060349 9.91 FGFR2 FGFR3 MSX2
16 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.89 HAND2 TWIST1
17 cranial suture morphogenesis GO:0060363 9.88 TWIST1 MSX2
18 endochondral bone growth GO:0003416 9.88 MSX2 FGFR3 FGFR2
19 odontogenesis GO:0042476 9.87 FGFR2 BGLAP TWIST1 MSX2
20 positive regulation of phospholipase activity GO:0010518 9.85 FGFR3 FGFR2 FGFR1
21 ossification GO:0001503 9.8 BGLAP IBSP MSX2 RUNX2 TWIST1
22 developmental process GO:0032502 9.76 FERD3L HAND2 TWIST1 TWIST2
23 osteoblast differentiation GO:0001649 9.73 IBSP HAND2 MSX2 RUNX2 TWIST1 BGLAP
24 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.7 HAND2 TWIST1
25 cellular response to endogenous stimulus GO:0071495 8.8 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor binding GO:0140297 9.98 TWIST1 TCF3 TCF12 RUNX2
2 transcription cis-regulatory region binding GO:0000976 9.97 TCF3 TCF12 RUNX2 MSX2 HAND2
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.88 FGFR3 FGFR2 FGFR1
4 E-box binding GO:0070888 9.86 HAND2 TCF12 TCF3 TWIST1
5 cis-regulatory region sequence-specific DNA binding GO:0000987 9.85 TCF3 TCF12 RUNX2
6 fibroblast growth factor binding GO:0017134 9.8 FGFR1 FGFR2 FGFR3
7 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.78 CASP8 CASP2
8 protein dimerization activity GO:0046983 9.76 FERD3L HAND2 TCF12 TCF3 TWIST1 TWIST2
9 bHLH transcription factor binding GO:0043425 9.56 RUNX2 TCF12 TCF3 TWIST1
10 fibroblast growth factor receptor activity GO:0005007 9.1 FGFR2 FGFR1 FGFR3

Sources for Saethre-Chotzen Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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