SWILS
MCID: SLW006
MIFTS: 27

Saul-Wilson Syndrome (SWILS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Saul-Wilson Syndrome

MalaCards integrated aliases for Saul-Wilson Syndrome:

Name: Saul-Wilson Syndrome 57 74 6
Microcephalic Osteodysplastic Dysplasia 57 74
Swils 57 74
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 59
Syndrome, Saul-Wilson 40

Characteristics:

Orphanet epidemiological data:

59
microcephalic osteodysplastic dysplasia, saul-wilson type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
saul-wilson syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 618150
ICD10 via Orphanet 34 Q78.8
Orphanet 59 ORPHA85172

Summaries for Saul-Wilson Syndrome

OMIM : 57 Saul-Wilson syndrome is a rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals (summary by Ferreira et al., 2018). (618150)

MalaCards based summary : Saul-Wilson Syndrome, also known as microcephalic osteodysplastic dysplasia, is related to dwarfism and clubfoot. An important gene associated with Saul-Wilson Syndrome is COG4 (Component Of Oligomeric Golgi Complex 4). Affiliated tissues include bone and eye, and related phenotypes are malar flattening and frontal bossing

UniProtKB/Swiss-Prot : 74 Saul-Wilson syndrome: A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals.

Related Diseases for Saul-Wilson Syndrome

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

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.4
2 clubfoot 10.3
3 isolated growth hormone deficiency, type ia 10.3
4 odontoid hypoplasia 10.3
5 brachydactyly 10.3
6 cataract 10.3
7 microcephaly 10.3
8 hip subluxation 10.3

Graphical network of the top 20 diseases related to Saul-Wilson Syndrome:



Diseases related to Saul-Wilson Syndrome

Symptoms & Phenotypes for Saul-Wilson Syndrome

Human phenotypes related to Saul-Wilson Syndrome:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 narrow nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000446
7 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
8 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
9 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
10 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
11 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
12 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
13 hypoplasia of the odontoid process 59 32 hallmark (90%) Very frequent (99-80%) HP:0003311
14 cone-shaped epiphyses of the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0010230
15 overhanging nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0011833
16 irregularity of vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0004582
17 pectus excavatum 32 HP:0000767
18 global developmental delay 32 HP:0001263
19 delayed speech and language development 32 HP:0000750
20 pectus carinatum 32 HP:0000768
21 prominent forehead 32 HP:0011220
22 micrognathia 32 HP:0000347
23 coxa valga 32 HP:0002673
24 intrauterine growth retardation 32 HP:0001511
25 postnatal growth retardation 32 HP:0008897
26 nyctalopia 32 HP:0000662
27 motor delay 32 HP:0001270
28 neutropenia 32 HP:0001875
29 wide anterior fontanel 32 HP:0000260
30 short distal phalanx of finger 32 HP:0009882
31 blue sclerae 32 HP:0000592
32 short metacarpal 32 HP:0010049
33 prominent superficial veins 32 HP:0001015
34 short metatarsal 32 HP:0010743
35 flared metaphysis 32 HP:0003015

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum
pectus carinatum

Head And Neck Head:
prominent forehead
large anterior fontanel

Head And Neck Nose:
narrow nasal bridge
convex nasal ridge

Skeletal Pelvis:
coxa valga

Neurologic Central Nervous System:
motor delay
developmental delay
speech delay
normal cognition

Head And Neck Eyes:
blue sclerae
cataracts
night blindness
prominent eyes
retinal pigmentary changes

Skeletal Feet:
short metatarsals
talipes equinovarus (clubfoot)

Head And Neck Ears:
hearing loss, sensorineural, mixed or conductive

Growth Height:
short stature

Head And Neck Face:
micrognathia
progeroid appearance
prominent veins

Skeletal Spine:
platyspondyly
dens hypoplasia

Growth Other:
postnatal growth retardation
prenatal growth retardation

Hematology:
neutropenia

Skeletal Hands:
short metacarpals
short distal phalanges
cone-shaped epiphyses of phalanges

Skeletal Limbs:
metaphyseal flaring of long bones
overtubulation of long bones
megaepiphyses of the long bones
dysplastic proximal radius

Clinical features from OMIM:

618150

Drugs & Therapeutics for Saul-Wilson Syndrome

Search Clinical Trials , NIH Clinical Center for Saul-Wilson Syndrome

Genetic Tests for Saul-Wilson Syndrome

Anatomical Context for Saul-Wilson Syndrome

MalaCards organs/tissues related to Saul-Wilson Syndrome:

41
Bone, Eye

Publications for Saul-Wilson Syndrome

Articles related to Saul-Wilson Syndrome:

# Title Authors PMID Year
1
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 38 8 71
30290151 2018
2
Microcephalic osteodysplastic dysplasia. 8 71
8074143 1994
3
A "new" skeletal dysplasia in two unrelated boys. 8 71
2309787 1990
4
Anesthetic Considerations in Saul-Wilson Syndrome, a Rare Skeletal Dysplasia: A Case Report. 38
30907751 2019
5
COMMENTARY-The Saul-Wilson syndrome from its early days until now. 38
30548960 2019
6
Two coexisting liquid phases in switchable ionic liquids. 38
28664967 2017
7
Progressive hip joint subluxation in Saul-Wilson syndrome. 38
26239279 2015
8
Safety words inventory and literacy screener: standardization and validation. 38
12462320 2002

Variations for Saul-Wilson Syndrome

ClinVar genetic disease variations for Saul-Wilson Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COG4 NM_015386.3(COG4): c.1546G> C (p.Gly516Arg) single nucleotide variant Pathogenic 16:70530270-70530270 16:70496367-70496367
2 COG4 NM_015386.3(COG4): c.1546G> A (p.Gly516Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1555575860 16:70530270-70530270 16:70496367-70496367

UniProtKB/Swiss-Prot genetic disease variations for Saul-Wilson Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 COG4 p.Gly512Arg VAR_081564 rs155557586

Expression for Saul-Wilson Syndrome

Search GEO for disease gene expression data for Saul-Wilson Syndrome.

Pathways for Saul-Wilson Syndrome

GO Terms for Saul-Wilson Syndrome

Sources for Saul-Wilson 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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