MCID: SWN003
MIFTS: 15

Sweeney-Cox Syndrome

Categories: Genetic diseases

Aliases & Classifications for Sweeney-Cox Syndrome

MalaCards integrated aliases for Sweeney-Cox Syndrome:

Name: Sweeney-Cox Syndrome 57 75 6
Swcos 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617746
MeSH 44 D003394

Summaries for Sweeney-Cox Syndrome

UniProtKB/Swiss-Prot : 75 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.

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, cerebellum and spleen.

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)

Related Diseases for Sweeney-Cox Syndrome

Symptoms & Phenotypes for Sweeney-Cox Syndrome

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

Skeletal Hands:
long fingers
relatively short distal phalanges
fixed flexion of distal phalanges
cutaneous syndactyly, bilateral 2/3/4/5

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

GenitourinaryInternal GenitaliaMale:
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

Anatomical Context for Sweeney-Cox Syndrome

MalaCards organs/tissues related to Sweeney-Cox Syndrome:

41
Bone, Cerebellum, Spleen

Publications for Sweeney-Cox Syndrome

Variations for Sweeney-Cox Syndrome

ClinVar genetic disease variations for Sweeney-Cox Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST1 NM_000474.3(TWIST1): c.350A> T (p.Glu117Val) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 19116972: 19116972
2 TWIST1 NM_000474.3(TWIST1): c.350A> T (p.Glu117Val) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 19156595: 19156595
3 TWIST1 NM_000474.3(TWIST1): c.350A> G (p.Glu117Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 19116972: 19116972
4 TWIST1 NM_000474.3(TWIST1): c.350A> G (p.Glu117Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 19156595: 19156595

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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