ESWS
MCID: ELS006
MIFTS: 26

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 57 53 75
Brachioskeletogenital Syndrome 57 53 75 6 73
Bsg Syndrome 57 53 75
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 57 75
Branchio-Skeleto-Genital Syndrome 53 73
Esws 57 75
Branchioskeletogenital Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
elsahy-waters syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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)

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 related phenotypes are hypertelorism and short neck

NIH Rare Diseases : 53 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism

Mouth:
bifid uvula
cleft plate, partial

Face:
maxillary hypoplasia

Mandible:
prognathism
dental cysts

Spine:
cervical spinous processes fused

Thorax:
pectus excavatum

G U:
penoscrotal hypospadias

Nose:
broad nasal bridge

Neuro:
mental retardation

Radiology:
schmorl nodes


Clinical features from OMIM:

211380

Human phenotypes related to Elsahy-Waters Syndrome:

32 (show top 50) (show all 56)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 hallmark (90%) HP:0000316
2 short neck 32 hallmark (90%) HP:0000470
3 pectus excavatum 32 hallmark (90%) HP:0000767
4 intellectual disability 32 HP:0001249
5 seizures 32 occasional (7.5%) HP:0001250
6 mandibular prognathia 32 hallmark (90%) HP:0000303
7 depressed nasal bridge 32 hallmark (90%) HP:0005280
8 wide nasal bridge 32 HP:0000431
9 carious teeth 32 hallmark (90%) HP:0000670
10 umbilical hernia 32 very rare (1%) HP:0001537
11 thickened calvaria 32 hallmark (90%) HP:0002684
12 microcephaly 32 hallmark (90%) HP:0000252
13 brachycephaly 32 hallmark (90%) HP:0000248
14 strabismus 32 hallmark (90%) HP:0000486
15 flat face 32 hallmark (90%) HP:0012368
16 telecanthus 32 hallmark (90%) HP:0000506
17 intellectual disability, moderate 32 hallmark (90%) HP:0002342
18 short philtrum 32 frequent (33%) HP:0000322
19 hypoplasia of the maxilla 32 hallmark (90%) HP:0000327
20 downslanted palpebral fissures 32 frequent (33%) HP:0000494
21 downturned corners of mouth 32 hallmark (90%) HP:0002714
22 broad nasal tip 32 hallmark (90%) HP:0000455
23 pointed chin 32 hallmark (90%) HP:0000307
24 high forehead 32 hallmark (90%) HP:0000348
25 highly arched eyebrow 32 hallmark (90%) HP:0002553
26 proptosis 32 hallmark (90%) HP:0000520
27 craniosynostosis 32 frequent (33%) HP:0001363
28 thin vermilion border 32 frequent (33%) HP:0000233
29 anteriorly placed anus 32 very rare (1%) HP:0001545
30 synophrys 32 hallmark (90%) HP:0000664
31 large earlobe 32 hallmark (90%) HP:0009748
32 abnormality of the shape of the midface 32 hallmark (90%) HP:0430026
33 bifid uvula 32 hallmark (90%) HP:0000193
34 micropenis 32 hallmark (90%) HP:0000054
35 abnormality of the vertebral column 32 HP:0000925
36 submucous cleft hard palate 32 hallmark (90%) HP:0000176
37 ureteral stenosis 32 occasional (7.5%) HP:0000071
38 absent nipple 32 very rare (1%) HP:0002561
39 attached earlobe 32 hallmark (90%) HP:0009907
40 penoscrotal hypospadias 32 hallmark (90%) HP:0000808
41 premature loss of teeth 32 frequent (33%) HP:0006480
42 thoracolumbar kyphoscoliosis 32 frequent (33%) HP:0003423
43 absent external genitalia 32 very rare (1%) HP:0000042
44 abnormality of the sella turcica 32 hallmark (90%) HP:0002679
45 mixed hearing impairment 32 frequent (33%) HP:0000410
46 bladder exstrophy 32 very rare (1%) HP:0002836
47 eyelid coloboma 32 occasional (7.5%) HP:0000625
48 periorbital wrinkles 32 hallmark (90%) HP:0000607
49 blepharochalasis 32 hallmark (90%) HP:0010749
50 abnormality of the vertebral spinous processes 32 hallmark (90%) HP:0008516

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:

41
Skin

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
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 GRCh38 Chromosome 16, 64988156: 64988156
2 CDH11 NM_001797.3(CDH11): c.999+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 16, 65022059: 65022059
3 CDH11 NM_001797.3(CDH11): c.1116_1117delCTinsGATCATCAG (p.Ile372Metfs) indel Pathogenic GRCh38 Chromosome 16, 64982184: 64982185
4 CDH11 NM_001797.3(CDH11): c.1116_1117delCTinsGATCATCAG (p.Ile372Metfs) indel Pathogenic GRCh37 Chromosome 16, 65016087: 65016088
5 CDH11 NM_001797.3(CDH11): c.696C> G (p.Tyr232Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 65025786: 65025786
6 CDH11 NM_001797.3(CDH11): c.696C> G (p.Tyr232Ter) single nucleotide variant Pathogenic 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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