SWCOS
MCID: SWN003
MIFTS: 25

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 56 12 73 29 6
Swcos 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
sweeney-cox syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 : 56 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 : 73 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:

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

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6 61
28369379 2017
2
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 6 56
27884935 2017
3
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 61
30450715 2018

Variations for Sweeney-Cox Syndrome

ClinVar genetic disease variations for Sweeney-Cox Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWIST1 NM_000474.4(TWIST1):c.350A>T (p.Glu117Val)SNV Pathogenic 444875 rs1554442016 7:19156595-19156595 7:19116972-19116972
2 TWIST1 NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)SNV Pathogenic 444876 rs1554442016 7:19156595-19156595 7:19116972-19116972
3 TWIST1 NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)SNV Uncertain significance 235255 rs878852992 7:19156851-19156851 7:19117228-19117228

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

73
# 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 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
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