ESWS
MCID: ELS006
MIFTS: 27

Elsahy-Waters Syndrome (ESWS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Elsahy-Waters Syndrome

MalaCards integrated aliases for Elsahy-Waters Syndrome:

Name: Elsahy-Waters Syndrome 58 54 76
Brachioskeletogenital Syndrome 58 54 76 6 74
Bsg Syndrome 58 54 76
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 58 76
Branchio-Skeleto-Genital Syndrome 54 74
Esws 58 76
Branchioskeletogenital Syndrome 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
elsahy-waters syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Elsahy-Waters Syndrome

OMIM : 58 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)

MalaCards based summary : Elsahy-Waters Syndrome, also known as brachioskeletogenital syndrome, is related to coloboma of macula and hypertelorism. An important gene associated with Elsahy-Waters Syndrome is CDH11 (Cadherin 11). Affiliated tissues include skin and brain, and related phenotypes are hypertelorism and short neck

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1299Disease definitionBranchioskeletogenital 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.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 76 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

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

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.5
2 hypertelorism 10.5
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
4 hypospadias 10.5

Symptoms & Phenotypes for Elsahy-Waters Syndrome

Human phenotypes related to Elsahy-Waters Syndrome:

33 (show top 50) (show all 84)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 short neck 33 hallmark (90%) HP:0000470
3 pectus excavatum 33 hallmark (90%) HP:0000767
4 mandibular prognathia 33 hallmark (90%) HP:0000303
5 depressed nasal bridge 33 hallmark (90%) HP:0005280
6 carious teeth 33 hallmark (90%) HP:0000670
7 thickened calvaria 33 hallmark (90%) HP:0002684
8 microcephaly 33 hallmark (90%) HP:0000252
9 brachycephaly 33 hallmark (90%) HP:0000248
10 strabismus 33 hallmark (90%) HP:0000486
11 flat face 33 hallmark (90%) HP:0012368
12 telecanthus 33 hallmark (90%) HP:0000506
13 intellectual disability, moderate 33 hallmark (90%) HP:0002342
14 hypoplasia of the maxilla 33 hallmark (90%) HP:0000327
15 downturned corners of mouth 33 hallmark (90%) HP:0002714
16 broad nasal tip 33 hallmark (90%) HP:0000455
17 pointed chin 33 hallmark (90%) HP:0000307
18 high forehead 33 hallmark (90%) HP:0000348
19 highly arched eyebrow 33 hallmark (90%) HP:0002553
20 proptosis 33 hallmark (90%) HP:0000520
21 synophrys 33 hallmark (90%) HP:0000664
22 large earlobe 33 hallmark (90%) HP:0009748
23 abnormality of the shape of the midface 33 hallmark (90%) HP:0430026
24 bifid uvula 33 hallmark (90%) HP:0000193
25 micropenis 33 hallmark (90%) HP:0000054
26 submucous cleft hard palate 33 hallmark (90%) HP:0000176
27 attached earlobe 33 hallmark (90%) HP:0009907
28 penoscrotal hypospadias 33 hallmark (90%) HP:0000808
29 rootless teeth 33 hallmark (90%) HP:0011072
30 abnormality of the sella turcica 33 hallmark (90%) HP:0002679
31 periorbital wrinkles 33 hallmark (90%) HP:0000607
32 blepharochalasis 33 hallmark (90%) HP:0010749
33 abnormality of the vertebral spinous processes 33 hallmark (90%) HP:0008516
34 unilateral cleft palate 33 hallmark (90%) HP:0100334
35 abnormality of dentin 33 hallmark (90%) HP:0010299
36 advanced pneumatization of the mastoid process 33 hallmark (90%) HP:0010724
37 short philtrum 33 frequent (33%) HP:0000322
38 downslanted palpebral fissures 33 frequent (33%) HP:0000494
39 craniosynostosis 33 frequent (33%) HP:0001363
40 thin vermilion border 33 frequent (33%) HP:0000233
41 premature loss of teeth 33 frequent (33%) HP:0006480
42 thoracolumbar kyphoscoliosis 33 frequent (33%) HP:0003423
43 mixed hearing impairment 33 frequent (33%) HP:0000410
44 seizures 33 occasional (7.5%) HP:0001250
45 ureteral stenosis 33 occasional (7.5%) HP:0000071
46 eyelid coloboma 33 occasional (7.5%) HP:0000625
47 cataract 33 very rare (1%) HP:0000518
48 umbilical hernia 33 very rare (1%) HP:0001537
49 wide intermamillary distance 33 very rare (1%) HP:0006610
50 glaucoma 33 very rare (1%) HP:0000501

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
megalocornea
proptosis
synophrys
downslanting palpebral fissures
more
Neurologic Central Nervous System:
global developmental delay
intellectual developmental impairment, mild to severe
no structural abnormalities seen on brain mri

Skeletal Skull:
brachycephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
broad nasal bridge
bulbous tip
upturned nostrils
bifid tip
low-hanging columella
more
Head And Neck Mouth:
high-arched palate
thin upper lip
thick lower lip
prominent crease under lips

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

Neurologic Behavioral Psychiatric Manifestations:
overly friendly personality

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

Head And Neck Head:
brachycephaly

Head And Neck Face:
long philtrum
broad forehead
midface retrusion
broad philtrum
malar hypoplasia
more
Genitourinary External Genitalia Male:
hypospadias
bifid scrotum

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

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

Drugs & Therapeutics for Elsahy-Waters Syndrome

Search Clinical Trials , NIH Clinical Center for Elsahy-Waters Syndrome

Genetic Tests for Elsahy-Waters Syndrome

Anatomical Context for Elsahy-Waters Syndrome

MalaCards organs/tissues related to Elsahy-Waters Syndrome:

42
Skin, Brain

Publications for Elsahy-Waters Syndrome

Articles related to Elsahy-Waters Syndrome:

# Title Authors Year
1
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. ( 29271567 )
2018
2
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. ( 30194892 )
2018
3
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. ( 28988429 )
2017
4
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. ( 27431290 )
2017
5
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. ( 20949527 )
2010

Variations for Elsahy-Waters Syndrome

ClinVar genetic disease variations for Elsahy-Waters Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH11 NM_001797.3(CDH11): c.999+1G> T single nucleotide variant Pathogenic rs1555515331 GRCh38 Chromosome 16, 64988156: 64988156
2 CDH11 NM_001797.3(CDH11): c.999+1G> T single nucleotide variant Pathogenic rs1555515331 GRCh37 Chromosome 16, 65022059: 65022059
3 CDH11 NM_001797.3(CDH11): c.1116_1117delCTinsGATCATCAG (p.Ile372Metfs) indel Pathogenic rs1555514463 GRCh38 Chromosome 16, 64982184: 64982185
4 CDH11 NM_001797.3(CDH11): c.1116_1117delCTinsGATCATCAG (p.Ile372Metfs) indel Pathogenic rs1555514463 GRCh37 Chromosome 16, 65016087: 65016088
5 CDH11 NM_001797.3(CDH11): c.696C> G (p.Tyr232Ter) single nucleotide variant Pathogenic rs1555515924 GRCh37 Chromosome 16, 65025786: 65025786
6 CDH11 NM_001797.3(CDH11): c.696C> G (p.Tyr232Ter) single nucleotide variant Pathogenic rs1555515924 GRCh38 Chromosome 16, 64991883: 64991883

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

Sources for Elsahy-Waters 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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