SWILS
MCID: SLW006
MIFTS: 41

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 12 25 43 72 15
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 12 58 29 6
Microcephalic Osteodysplastic Dysplasia 57 25 43 72
Swils 57 12 72
Microcephalic Osteodysplastic Dysplasia Saul Wilson Type 43
Syndrome, Saul-Wilson 39

Characteristics:

Orphanet epidemiological data:

58
microcephalic osteodysplastic dysplasia, saul-wilson type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
saul-wilson syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is thought to be 100%.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Saul-Wilson Syndrome

MedlinePlus Genetics : 43 Saul-Wilson syndrome is characterized by short stature (dwarfism) and other skeletal abnormalities. The growth problems in Saul-Wilson syndrome are called primordial, which means they begin before birth; affected individuals show slow prenatal growth (intrauterine growth retardation). After birth, affected individuals continue to grow at a very slow rate, with the average adult height being 3 feet, 6 inches (107 centimeters).Individuals with Saul-Wilson syndrome have distinctive facial features that often include a prominent forehead, sparse scalp hair and eyebrows, prominent scalp veins, a narrow nasal bridge, a beaked nose, a wide area separating the nostrils (broad columella), a thin upper lip, and a small lower jaw (micrognathia). This combination of facial features can give affected individuals an appearance of premature aging, particularly in infancy, that is sometimes described as progeroid.Additional skeletal abnormalities in Saul-Wilson syndrome include abnormalities in the structure of the long bones, short fingers and toes, an inward- and downward-turning foot (clubfoot), an abnormality of the hip joint that causes a decreased angle between the head and shaft of the upper leg bones (coxa vara), or flattened bones of the spine (platyspondyly) and other spinal abnormalities. Some affected individuals have bones that are unusually fragile, resulting in bone fractures that occur with little or no trauma. Adults with Saul-Wilson syndrome may experience joint pain (osteoarthritis) due to breakdown (degeneration) of the joints.Children with Saul-Wilson syndrome often have hearing loss, clouding of the lenses of the eyes (cataracts), or a blue tint to the whites of the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer (retina) at the back of the eye can cause vision loss. Individuals with Saul-Wilson syndrome may have early delay of speech and motor development, but they usually have normal intelligence.In Saul-Wilson syndrome, levels of white blood cells can vary from normal to low (intermittent neutropenia). Neutropenia makes it more difficult for the body to fight off foreign invaders such as bacteria and viruses, and may contribute to recurrent respiratory infections that occur in childhood in some individuals with Saul-Wilson syndrome.

MalaCards based summary : Saul-Wilson Syndrome, also known as microcephalic osteodysplastic dysplasia, saul-wilson type, is related to clubfoot and osteochondrodysplasia. An important gene associated with Saul-Wilson Syndrome is COG4 (Component Of Oligomeric Golgi Complex 4), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Golgi-to-ER retrograde transport. Affiliated tissues include eye, retina and bone, and related phenotypes are frontal bossing and cataract

Disease Ontology : 12 A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

GeneReviews: NBK554080

Related Diseases for Saul-Wilson Syndrome

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 clubfoot 29.8 ZNF664 COG4 CHST3 CHST14
2 osteochondrodysplasia 10.3
3 cataract 10.3
4 dwarfism 10.3
5 isolated growth hormone deficiency, type ia 10.2
6 brachydactyly 10.2
7 congenital disorder of glycosylation, type iil 10.1 COG4 COG1
8 retinitis pigmentosa 10.1
9 odontoid hypoplasia 10.1
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
11 seckel syndrome 10.1
12 autosomal recessive disease 10.1
13 cone dystrophy 10.1
14 spondyloepimetaphyseal dysplasia 10.1
15 microcephaly 10.1
16 neutropenia 10.1
17 fundus dystrophy 10.1
18 hip subluxation 10.1
19 inherited retinal disorder 10.1
20 ehlers-danlos syndrome, musculocontractural type, 1 10.0 CHST3 CHST14
21 cone-rod dystrophy, x-linked, 2 10.0 COG5 COG4 COG1
22 congenital disorder of glycosylation, type iij 10.0 COG5 COG4 COG1
23 cone-rod dystrophy, x-linked, 1 10.0 COG5 COG4 COG1
24 congenital disorder of glycosylation, type iii 10.0 COG5 COG4 COG1
25 larsen-like syndrome b3gat3 type 10.0 CHST3 CHST14
26 desbuquois dysplasia 10.0 CHST3 CHST14
27 congenital disorder of glycosylation, type in 10.0 COG5 COG4 COG1
28 immunodeficiency 47 9.9 COG5 COG4 COG1
29 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9 CHST3 CHST14
30 stromal dystrophy 9.9 TGDS DCN
31 temtamy preaxial brachydactyly syndrome 9.9 TGDS CHST3 CHST14
32 larsen syndrome 9.8 TGDS CHST3 CHST14
33 collagen disease 9.7 DCN CHST14
34 macular dystrophy, corneal 9.7 DCN CHST3 CHST14
35 bethlem myopathy 1 9.6 DCN CHST14

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:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
6 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
7 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
8 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
9 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
10 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
11 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
12 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
13 hypoplasia of the odontoid process 58 31 hallmark (90%) Very frequent (99-80%) HP:0003311
14 cone-shaped epiphyses of the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0010230
15 irregularity of vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004582
16 overhanging nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0011833
17 global developmental delay 31 HP:0001263
18 delayed speech and language development 31 HP:0000750
19 pectus carinatum 31 HP:0000768
20 prominent forehead 31 HP:0011220
21 intrauterine growth retardation 31 HP:0001511
22 postnatal growth retardation 31 HP:0008897
23 micrognathia 31 HP:0000347
24 pectus excavatum 31 HP:0000767
25 motor delay 31 HP:0001270
26 nyctalopia 31 HP:0000662
27 neutropenia 31 HP:0001875
28 short distal phalanx of finger 31 HP:0009882
29 coxa valga 31 HP:0002673
30 blue sclerae 31 HP:0000592
31 wide anterior fontanel 31 HP:0000260
32 short metacarpal 31 HP:0010049
33 short metatarsal 31 HP:0010743
34 flared metaphysis 31 HP:0003015
35 prominent superficial veins 31 HP:0001015

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Chest External Features:
pectus carinatum
pectus excavatum

Head And Neck Head:
prominent forehead
large anterior fontanel

Head And Neck Face:
micrognathia
progeroid appearance
prominent veins

Skeletal Spine:
platyspondyly
dens hypoplasia

Head And Neck Nose:
convex nasal ridge
narrow nasal bridge

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

Growth Other:
postnatal growth retardation
prenatal growth retardation

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

Hematology:
neutropenia

Skeletal Pelvis:
coxa valga

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 (Updated 20-May-2021)

Drugs & Therapeutics for Saul-Wilson Syndrome

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

Genetic Tests for Saul-Wilson Syndrome

Genetic tests related to Saul-Wilson Syndrome:

# Genetic test Affiliating Genes
1 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 29 COG4

Anatomical Context for Saul-Wilson Syndrome

MalaCards organs/tissues related to Saul-Wilson Syndrome:

40
Eye, Retina, Bone

Publications for Saul-Wilson Syndrome

Articles related to Saul-Wilson Syndrome:

(show all 16)
# Title Authors PMID Year
1
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 25 57 6 61
30290151 2018
2
Microcephalic osteodysplastic dysplasia. 6 57 25
8074143 1994
3
A "new" skeletal dysplasia in two unrelated boys. 25 6 57
2309787 1990
4
Defining the clinical phenotype of Saul-Wilson syndrome. 6 25 61
31949312 2020
5
Progressive hip joint subluxation in Saul-Wilson syndrome. 61 25
26239279 2015
6
Best practices in peri-operative management of patients with skeletal dysplasias. 25
28763154 2017
7
Revised reference curves for bone mineral content and areal bone mineral density according to age and sex for black and non-black children: results of the bone mineral density in childhood study. 25
21917867 2011
8
Height adjustment in assessing dual energy x-ray absorptiometry measurements of bone mass and density in children. 25
20103654 2010
9
Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model. 61
33688625 2021
10
Corrigendum: Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model. 61
33791595 2021
11
Growth in individuals with Saul-Wilson syndrome. 61
32652690 2020
12
Saul-Wilson Syndrome 61
32078278 2020
13
Anesthetic Considerations in Saul-Wilson Syndrome, a Rare Skeletal Dysplasia: A Case Report. 61
30907751 2019
14
COMMENTARY-The Saul-Wilson syndrome from its early days until now. 61
30548960 2019
15
Two coexisting liquid phases in switchable ionic liquids. 61
28664967 2017
16
Safety words inventory and literacy screener: standardization and validation. 61
12462320 2002

Variations for Saul-Wilson Syndrome

ClinVar genetic disease variations for Saul-Wilson Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COG4 NM_015386.3(COG4):c.1546G>C (p.Gly516Arg) SNV Pathogenic 585271 rs1555575860 GRCh37: 16:70530270-70530270
GRCh38: 16:70496367-70496367
2 COG4 NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) SNV Pathogenic 449730 rs1555575860 GRCh37: 16:70530270-70530270
GRCh38: 16:70496367-70496367

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

72
# 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

Pathways related to Saul-Wilson Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 COPE COG5 COG4 COG1
2
Show member pathways
12.08 COPE COG5 COG4 COG1
3
Show member pathways
12.05 DCN CHST3 CHST14
4 10.82 COG5 COG4 COG1
5 10.81 DCN CHST3
6 10.45 COG5 COG4 COG1

GO Terms for Saul-Wilson Syndrome

Cellular components related to Saul-Wilson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.63 COPE COG5 COG4 COG1 CHST3 CHST14
2 trans-Golgi network membrane GO:0032588 9.43 COG5 COG4 COG1
3 Golgi membrane GO:0000139 9.43 COPE COG5 COG4 COG1 CHST3 CHST14
4 Golgi transport complex GO:0017119 8.8 COG5 COG4 COG1

Biological processes related to Saul-Wilson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.62 COPE COG5 COG4 COG1
2 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.37 COPE COG4
3 chondroitin sulfate biosynthetic process GO:0030206 9.26 DCN CHST3
4 ER to Golgi vesicle-mediated transport GO:0006888 9.26 COPE COG5 COG4 COG1
5 dermatan sulfate biosynthetic process GO:0030208 9.16 DCN CHST14
6 intra-Golgi vesicle-mediated transport GO:0006891 8.8 COPE COG5 COG1

Molecular functions related to Saul-Wilson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 8.62 CHST3 CHST14

Sources for Saul-Wilson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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