ESWS
MCID: ELS006
MIFTS: 42

Elsahy-Waters Syndrome (ESWS)

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

Aliases & Classifications for Elsahy-Waters Syndrome

MalaCards integrated aliases for Elsahy-Waters Syndrome:

Name: Elsahy-Waters Syndrome 57 12 20 58 72 29 6 15
Brachioskeletogenital Syndrome 57 20 72 70
Bsg Syndrome 57 20 58 72
Branchioskeletogenital Syndrome 12 20 58
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 57 72
Branchio-Skeleto-Genital Syndrome 20 70
Esws 57 72

Characteristics:

Orphanet epidemiological data:

58
branchioskeletogenital syndrome
Inheritance: Autosomal recessive,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
elsahy-waters syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Elsahy-Waters Syndrome

OMIM® : 57 The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss,and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (Castori et al., 2010). (211380) (Updated 05-Apr-2021)

MalaCards based summary : Elsahy-Waters Syndrome, also known as brachioskeletogenital syndrome, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and hypertelorism. An important gene associated with Elsahy-Waters Syndrome is CDH11 (Cadherin 11), and among its related pathways/superpathways are ERK Signaling and Gastric cancer. The drugs insulin and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related phenotypes are short neck and depressed nasal bridge

Disease Ontology : 12 A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1299 Definition Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

UniProtKB/Swiss-Prot : 72 Elsahy-Waters syndrome: An autosomal recessive syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism, telechantus, broad nose, concave nasal ridge, underdeveloped mid-face, prognathism, and radicular dentin dysplasia.

Related Diseases for Elsahy-Waters Syndrome

Graphical network of the top 20 diseases related to Elsahy-Waters Syndrome:



Diseases related to Elsahy-Waters Syndrome

Symptoms & Phenotypes for Elsahy-Waters Syndrome

Human phenotypes related to Elsahy-Waters Syndrome:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
5 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
6 thickened calvaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002684
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
9 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
10 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
11 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
12 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
13 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
14 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
15 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
16 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
17 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
18 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
19 pointed chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000307
20 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
21 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
22 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
23 abnormality of the shape of the midface 58 31 hallmark (90%) Very frequent (99-80%) HP:0430026
24 bifid uvula 58 31 hallmark (90%) Very frequent (99-80%) HP:0000193
25 submucous cleft hard palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000176
26 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
27 attached earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009907
28 penoscrotal hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000808
29 abnormality of the sella turcica 58 31 hallmark (90%) Very frequent (99-80%) HP:0002679
30 periorbital wrinkles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000607
31 abnormality of the vertebral spinous processes 58 31 hallmark (90%) Very frequent (99-80%) HP:0008516
32 abnormality of dentin 58 31 hallmark (90%) Very frequent (99-80%) HP:0010299
33 advanced pneumatization of the mastoid process 58 31 hallmark (90%) Very frequent (99-80%) HP:0010724
34 blepharochalasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010749
35 rootless teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0011072
36 unilateral cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0100334
37 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
38 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
39 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
40 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
41 mixed hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000410
42 premature loss of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006480
43 thoracolumbar kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0003423
44 ureteral stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000071
45 seizure 31 occasional (7.5%) HP:0001250
46 eyelid coloboma 31 occasional (7.5%) HP:0000625
47 umbilical hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0001537
48 anteriorly placed anus 58 31 very rare (1%) Very rare (<4-1%) HP:0001545
49 absent nipple 58 31 very rare (1%) Very rare (<4-1%) HP:0002561
50 bladder exstrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0002836

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
intellectual developmental impairment, mild to severe
no structural abnormalities seen on brain mri

Head And Neck Head:
brachycephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
bifid scrotum
hypospadias

Head And Neck Mouth:
thin upper lip
high-arched palate
thick lower lip
prominent crease under lips

Head And Neck Teeth:
malocclusion
delayed tooth eruption
impacted teeth
dentigerous cyst

Chest Breasts:
widely spaced nipples (rare)
central dimple of nipples (rare)

Neurologic Behavioral Psychiatric Manifestations:
overly friendly personality

Head And Neck Eyes:
hypertelorism
proptosis
megalocornea
synophrys
downslanting palpebral fissures
more
Skeletal Skull:
brachycephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Face:
long philtrum
broad forehead
midface retrusion
broad philtrum
malar hypoplasia
more
Head And Neck Nose:
broad nasal bridge
bulbous tip
upturned nostrils
bifid tip
low-hanging columella
more
Abdomen Gastrointestinal:
anteriorly placed anus (rare)
anal stenosis (rare)

Skeletal Spine:
fusion between c2 and c3
brachydactyly (rare)
cutaneous syndactyly, 2-3

Clinical features from OMIM®:

211380 (Updated 05-Apr-2021)

Drugs & Therapeutics for Elsahy-Waters Syndrome

Drugs for Elsahy-Waters Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin
2 Mitogens
3 Endothelial Growth Factors
4 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Focused Shockwave Treatment in the Recovery Process of Acute Muscle Injuries in Soccer Players Recruiting NCT04123782
2 Methodological Validation of an Intermittent Shuttle Walking Protocol in the Context of Pulmonary Rehabilitation in Patients With Advanced COPD Not yet recruiting NCT04326855

Search NIH Clinical Center for Elsahy-Waters Syndrome

Genetic Tests for Elsahy-Waters Syndrome

Genetic tests related to Elsahy-Waters Syndrome:

# Genetic test Affiliating Genes
1 Elsahy-Waters Syndrome 29 CDH11

Anatomical Context for Elsahy-Waters Syndrome

MalaCards organs/tissues related to Elsahy-Waters Syndrome:

40
Brain, Endothelial

Publications for Elsahy-Waters Syndrome

Articles related to Elsahy-Waters Syndrome:

# Title Authors PMID Year
1
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. 57 6 61
29271567 2018
2
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. 61 6 57
28988429 2017
3
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 6 57
27431290 2017
4
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. 57 61
20949527 2010
5
Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome. 57
9843000 1998
6
The branchio-skeleto-genital syndrome. A new hereditary syndrome. 57
5141271 1971
7
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. 61
33811546 2021
8
Cadherin-11 Is Required for Neural Crest Specification and Survival. 61
33192560 2020
9
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. 61
30194892 2018
10
Cranio-facial and dental anomalies in the Branchio-Skeleto-Genital (BSG) syndrome with suggestions for more appropriate nomenclature. 61
6575818 1983

Variations for Elsahy-Waters Syndrome

ClinVar genetic disease variations for Elsahy-Waters Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH11 NM_001797.4(CDH11):c.999+1G>T SNV Pathogenic 523097 rs1555515331 GRCh37: 16:65022059-65022059
GRCh38: 16:64988156-64988156
2 CDH11 NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG (p.Ile372fs) Indel Pathogenic 523098 rs1555514463 GRCh37: 16:65016087-65016088
GRCh38: 16:64982184-64982185
3 CDH11 NM_001797.4(CDH11):c.696C>G (p.Tyr232Ter) SNV Pathogenic 523099 rs1555515924 GRCh37: 16:65025786-65025786
GRCh38: 16:64991883-64991883
4 CDH11 NM_001797.4(CDH11):c.1895-668dup Duplication Pathogenic 1032001 GRCh37: 16:64982664-64982665
GRCh38: 16:64948761-64948762

Expression for Elsahy-Waters Syndrome

Search GEO for disease gene expression data for Elsahy-Waters Syndrome.

Pathways for Elsahy-Waters Syndrome

GO Terms for Elsahy-Waters Syndrome

Cellular components related to Elsahy-Waters Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catenin complex GO:0016342 8.62 CDH17 CDH11

Biological processes related to Elsahy-Waters Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.32 CDH17 CDH11
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.26 CDH17 CDH11
3 adherens junction organization GO:0034332 9.16 CDH17 CDH11
4 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 8.96 CDH17 CDH11
5 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 8.62 CDH17 CDH11

Molecular functions related to Elsahy-Waters Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.62 CDH17 CDH11

Sources for Elsahy-Waters 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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