SWILS
MCID: SLW006
MIFTS: 24

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 58 76 6
Microcephalic Osteodysplastic Dysplasia 58 76
Swils 58 76
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 60
Syndrome, Saul-Wilson 41

Characteristics:

Orphanet epidemiological data:

60
microcephalic osteodysplastic dysplasia, saul-wilson type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


Classifications:



Summaries for Saul-Wilson Syndrome

OMIM : 58 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, is also known as microcephalic osteodysplastic dysplasia. 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 : 76 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

Symptoms & Phenotypes for Saul-Wilson Syndrome

Human phenotypes related to Saul-Wilson Syndrome:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
4 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
7 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
8 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
9 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
10 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
11 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
12 narrow nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000446
13 hypoplasia of the odontoid process 60 33 hallmark (90%) Very frequent (99-80%) HP:0003311
14 cone-shaped epiphyses of the phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0010230
15 overhanging nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0011833
16 irregularity of vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0004582
17 pectus excavatum 33 HP:0000767
18 global developmental delay 33 HP:0001263
19 delayed speech and language development 33 HP:0000750
20 pectus carinatum 33 HP:0000768
21 prominent forehead 33 HP:0011220
22 micrognathia 33 HP:0000347
23 intrauterine growth retardation 33 HP:0001511
24 postnatal growth retardation 33 HP:0008897
25 nyctalopia 33 HP:0000662
26 motor delay 33 HP:0001270
27 wide anterior fontanel 33 HP:0000260
28 short distal phalanx of finger 33 HP:0009882
29 blue sclerae 33 HP:0000592
30 short metacarpal 33 HP:0010049
31 prominent superficial veins 33 HP:0001015
32 short metatarsal 33 HP:0010743
33 flared metaphysis 33 HP:0003015

Symptoms via clinical synopsis from OMIM:

58
Chest External Features:
pectus excavatum
pectus carinatum

Head And Neck Head:
prominent forehead
large anterior fontanel

Skeletal Spine:
platyspondyly
dens hypoplasia

Growth Other:
postnatal growth retardation
prenatal growth retardation

Hematology:
neutropenia

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 Pelvis:
coxa valga

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

Head And Neck Nose:
convex nasal ridge
narrow nasal bridge

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:

42
Bone, Eye

Publications for Saul-Wilson Syndrome

Articles related to Saul-Wilson Syndrome:

# Title Authors Year
1
Anesthetic Considerations in Saul-Wilson Syndrome, a Rare Skeletal Dysplasia: A Case Report. ( 30907751 )
2019
2
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. ( 30290151 )
2018
3
COMMENTARY-The Saul-Wilson syndrome from its early days until now. ( 30548960 )
2018
4
Progressive hip joint subluxation in Saul-Wilson syndrome. ( 26239279 )
2015
5
Microcephalic osteodysplastic dysplasia. ( 8074143 )
1994
6
A "new" skeletal dysplasia in two unrelated boys. ( 2309787 )
1990

Variations for Saul-Wilson Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 COG4 p.Gly512Arg VAR_081564 rs155557586

ClinVar genetic disease variations for Saul-Wilson Syndrome:

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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