SWCOS
MCID: SWN003
MIFTS: 23

Sweeney-Cox Syndrome (SWCOS)

Categories: Bone diseases, Ear diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Sweeney-Cox Syndrome

MalaCards integrated aliases for Sweeney-Cox Syndrome:

Name: Sweeney-Cox Syndrome 57 12 74 29 6
Swcos 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 unrelated patients (last curated october 2017)


HPO:

32
sweeney-cox syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080538
OMIM 57 617746
MeSH 44 D003394

Summaries for Sweeney-Cox Syndrome

Disease Ontology : 12 A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has material basis in heterozygous mutation in the TWIST1 gene on chromosome 7p21.

MalaCards based summary : Sweeney-Cox Syndrome, is also known as swcos. An important gene associated with Sweeney-Cox Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1). Affiliated tissues include bone, spleen and cerebellum, and related phenotypes are hypertelorism and low-set ears

OMIM : 57 Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017). (617746)

UniProtKB/Swiss-Prot : 74 Sweeney-Cox syndrome: An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears.

Related Diseases for Sweeney-Cox Syndrome

Symptoms & Phenotypes for Sweeney-Cox Syndrome

Human phenotypes related to Sweeney-Cox Syndrome:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 hearing impairment 32 HP:0000365
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 microtia 32 HP:0008551
8 gastroesophageal reflux 32 HP:0002020
9 brachycephaly 32 HP:0000248
10 cleft palate 32 HP:0000175
11 micrognathia 32 HP:0000347
12 short philtrum 32 HP:0000322
13 generalized hirsutism 32 HP:0002230
14 narrow mouth 32 HP:0000160
15 broad neck 32 HP:0000475
16 underdeveloped nasal alae 32 HP:0000430
17 cerebellar hypoplasia 32 HP:0001321
18 overfolded helix 32 HP:0000396
19 choanal atresia 32 HP:0000453
20 anal atresia 32 HP:0002023
21 midface retrusion 32 HP:0011800
22 wide anterior fontanel 32 HP:0000260
23 asplenia 32 HP:0001746
24 prominent metopic ridge 32 HP:0005487
25 bilateral cryptorchidism 32 HP:0008689
26 long fingers 32 HP:0100807
27 short clavicles 32 HP:0000894
28 cupped ear 32 HP:0000378
29 short columella 32 HP:0002000
30 upper eyelid coloboma 32 HP:0000636
31 widow's peak 32 HP:0000349
32 cutaneous syndactyly 32 HP:0012725

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
upper eyelid colobomas
deficient bony orbits
pseudoproptosis
small globes

Neurologic Central Nervous System:
global developmental delay
small cerebellum
learning disability, moderate
speech delay, moderate
small facial nerves

Abdomen Gastrointestinal:
gastroesophageal reflux
imperforate anus

Head And Neck Mouth:
cleft palate
high-arched palate
small mouth

Head And Neck Neck:
broad neck

Head And Neck Face:
prominent metopic ridge
widow's peak
midface hypoplasia
low hairline
micrognathia, mild

Chest Ribs Sternum Clavicles And Scapulae:
short clavicles
convex medial margins of scapulae

Abdomen Spleen:
absent spleen (in 1 patient)

Head And Neck Ears:
low-set ears
small ears
cupped ears
overfolded helices
upturned lobes
more
Head And Neck Nose:
wide nasal bridge
short philtrum
choanal atresia
short columella
hypoplastic alae nasi
more
Head And Neck Head:
brachycephaly
flattened occiput

Skin Nails Hair Hair:
generalized hirsutism
low hairline
patches of hair on back
tufts of hair around ankles

Skeletal Skull:
wide anterior fontanel
small frontal bones
thickened frontal bone
patent metopic suture
patent coronal sutures
more
Skeletal Hands:
long fingers
relatively short distal phalanges
fixed flexion of distal phalanges
cutaneous syndactyly, bilateral 2/3/4/5

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Skeletal Feet:
cutaneous syndactyly, bilateral 2/3/4/5 talipes equinovarus, bilateral

Clinical features from OMIM:

617746

Drugs & Therapeutics for Sweeney-Cox Syndrome

Search Clinical Trials , NIH Clinical Center for Sweeney-Cox Syndrome

Genetic Tests for Sweeney-Cox Syndrome

Genetic tests related to Sweeney-Cox Syndrome:

# Genetic test Affiliating Genes
1 Sweeney-Cox Syndrome 29 TWIST1

Anatomical Context for Sweeney-Cox Syndrome

MalaCards organs/tissues related to Sweeney-Cox Syndrome:

41
Bone, Spleen, Cerebellum

Publications for Sweeney-Cox Syndrome

Articles related to Sweeney-Cox Syndrome:

# Title Authors PMID Year
1
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. 38 8 71
28369379 2017
2
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 8 71
27884935 2017
3
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 38
30450715 2018

Variations for Sweeney-Cox Syndrome

ClinVar genetic disease variations for Sweeney-Cox Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TWIST1 NM_000474.4(TWIST1): c.350A> T (p.Glu117Val) single nucleotide variant Pathogenic rs1554442016 7:19156595-19156595 7:19116972-19116972
2 TWIST1 NM_000474.4(TWIST1): c.350A> G (p.Glu117Gly) single nucleotide variant Pathogenic rs1554442016 7:19156595-19156595 7:19116972-19116972
3 TWIST1 NM_000474.4(TWIST1): c.94G> A (p.Gly32Ser) single nucleotide variant Uncertain significance rs878852992 7:19156851-19156851 7:19117228-19117228

UniProtKB/Swiss-Prot genetic disease variations for Sweeney-Cox Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 TWIST1 p.Glu117Gly VAR_080515
2 TWIST1 p.Glu117Val VAR_080516 rs155444201

Expression for Sweeney-Cox Syndrome

Search GEO for disease gene expression data for Sweeney-Cox Syndrome.

Pathways for Sweeney-Cox Syndrome

GO Terms for Sweeney-Cox Syndrome

Sources for Sweeney-Cox Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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