DESSH
MCID: DSN002
MIFTS: 35

Desanto-Shinawi Syndrome (DESSH)

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

Aliases & Classifications for Desanto-Shinawi Syndrome

MalaCards integrated aliases for Desanto-Shinawi Syndrome:

Name: Desanto-Shinawi Syndrome 57 72 36 29 6
Dessh 57 72
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to 10p11.21p12.31 Microdeletion 58
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to Wac Point Mutation 58
Developmental Delay, Behavioral Abnormalities, Facial Dysmorphism, and Ocular Abnormalities 57
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome 58
10p12p11 Microdeletion Syndrome 58
Syndrome, Desanto-Shinawi 39
Deletion 10p11.21p12.31 58
Monosomy 10p11.21p12.31 58
Del(10)(p11.21p12.31) 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

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

Miscellaneous:
variable features
onset in first year of life
de novo mutations


HPO:

31
desanto-shinawi syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Desanto-Shinawi Syndrome

UniProtKB/Swiss-Prot : 72 DeSanto-Shinawi syndrome: An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies.

MalaCards based summary : Desanto-Shinawi Syndrome, also known as dessh, is related to alacrima, achalasia, and mental retardation syndrome and macroglossia. An important gene associated with Desanto-Shinawi Syndrome is WAC (WW Domain Containing Adaptor With Coiled-Coil). Affiliated tissues include eye, kidney and brain, and related phenotypes are intellectual disability and global developmental delay

OMIM® : 57 DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015). (616708) (Updated 05-Apr-2021)

KEGG : 36 DeSanto-Shinawi syndrome is characterised by facial dysmorphism, eye abnormalities, developmental delay, behavioral abnormalities, and hypotonia. Recent case reports of patients have implicated overlapping deletions encompassing 10p11.23 in the specific features of this disease. And it has been suggested that WAC loss-of-function mutations are responsible for most of those phenotypic features.

Wikipedia : 73 DeSanto-Shinawi (DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in... more...

Related Diseases for Desanto-Shinawi Syndrome

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

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.4
2 macroglossia 10.2
3 neutropenia 10.2
4 thrombocytopenia 10.2
5 status epilepticus 10.2
6 agammaglobulinemia 10.2
7 hypotonia 10.2

Graphical network of the top 20 diseases related to Desanto-Shinawi Syndrome:



Diseases related to Desanto-Shinawi Syndrome

Symptoms & Phenotypes for Desanto-Shinawi Syndrome

Human phenotypes related to Desanto-Shinawi Syndrome:

58 31 (show top 50) (show all 122)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Frequent (79-30%),Frequent (79-30%),Very frequent (99-80%) HP:0000750
4 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
5 attention deficit hyperactivity disorder 58 31 hallmark (90%) Frequent (79-30%),Frequent (79-30%),Very frequent (99-80%) HP:0007018
6 motor delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001270
7 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
8 sleep disturbance 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002360
9 constipation 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002019
10 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001319
11 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
12 strabismus 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000486
13 absent speech 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001344
14 anxiety 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000739
15 astigmatism 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0000483
16 feeding difficulties 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0011968
17 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
18 aggressive behavior 58 31 frequent (33%) Occasional (29-5%),Occasional (29-5%),Frequent (79-30%) HP:0000718
19 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
20 gastrointestinal dysmotility 58 31 frequent (33%) Frequent (79-30%) HP:0002579
21 oral motor hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0030190
22 delayed fine motor development 58 31 frequent (33%) Frequent (79-30%) HP:0010862
23 square face 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000321
24 seizure 31 very rare (1%) HP:0001250
25 dysarthria 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001260
26 dysphagia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002015
27 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0100716
28 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
29 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0005280
30 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000316
31 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
32 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000431
33 pes planus 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0001763
34 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
35 sensorineural hearing impairment 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000407
36 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
37 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002020
38 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0011220
39 obesity 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001513
40 epicanthus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000286
41 myopia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000545
42 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
43 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
44 celiac disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002608
45 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003186
46 wide mouth 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000154
47 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
48 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001156
49 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
50 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
constipation
feeding difficulties

Head And Neck Eyes:
hypertelorism
strabismus
myopia
synophrys
astigmatism
more
Head And Neck Face:
prominent forehead
full cheeks
broad forehead
midface retrusion
coarse face

Head And Neck Ears:
posteriorly rotated ears
simple ears
sensorineural hearing loss (in some patients)

Head And Neck Mouth:
thin upper lip
downturned mouth
absence of cupid bow

Neurologic Central Nervous System:
seizures (in some patients)
delayed psychomotor development
delayed speech
thin corpus callosum (in some patients)

Head And Neck Neck:
short neck

Head And Neck Head:
brachycephaly

Neurologic Behavioral Psychiatric Manifestations:
anxiety
agitation
autistic features
aggression
attention deficit-hyperactivity disorder

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
flat nasal bridge
bulbous nasal tip

Skin Nails Hair Hair:
hirsutism (in some patients)

Clinical features from OMIM®:

616708 (Updated 05-Apr-2021)

Drugs & Therapeutics for Desanto-Shinawi Syndrome

Search Clinical Trials , NIH Clinical Center for Desanto-Shinawi Syndrome

Genetic Tests for Desanto-Shinawi Syndrome

Genetic tests related to Desanto-Shinawi Syndrome:

# Genetic test Affiliating Genes
1 Desanto-Shinawi Syndrome 29 WAC

Anatomical Context for Desanto-Shinawi Syndrome

MalaCards organs/tissues related to Desanto-Shinawi Syndrome:

40
Eye, Kidney, Brain, Heart

Publications for Desanto-Shinawi Syndrome

Articles related to Desanto-Shinawi Syndrome:

(show all 11)
# Title Authors PMID Year
1
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 6 57
26264232 2015
2
De novo mutations in moderate or severe intellectual disability. 6 57
25356899 2014
3
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 6
26757981 2016
4
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. 57
22258158 2012
5
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. 57
21522184 2011
6
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion. 57
18080323 2008
7
Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. 61
33387902 2021
8
A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation. 61
33123400 2020
9
[WAC gene pathogenic variation cause DeSanto-Shinawi syndrome with electrical status epilepticus during sleep]. 61
31594069 2019
10
Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation. 61
29663678 2018
11
DeSanto-Shinawi Syndrome: First Case in South America. 61
29928181 2018

Variations for Desanto-Shinawi Syndrome

ClinVar genetic disease variations for Desanto-Shinawi Syndrome:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WAC NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) SNV Pathogenic 584445 rs1564421528 GRCh37: 10:28903595-28903595
GRCh38: 10:28614666-28614666
2 WAC NM_016628.5(WAC):c.1470_1477del (p.Gln492fs) Deletion Pathogenic 811315 rs1589247025 GRCh37: 10:28903524-28903531
GRCh38: 10:28614595-28614602
3 WAC NM_016628.5(WAC):c.405G>A (p.Trp135Ter) SNV Pathogenic 917876 GRCh37: 10:28878688-28878688
GRCh38: 10:28589759-28589759
4 WAC NM_016628.5(WAC):c.259_260AG[2] (p.Glu88fs) Microsatellite Pathogenic 219139 rs864321689 GRCh37: 10:28824671-28824674
GRCh38: 10:28535742-28535745
5 WAC NM_016628.5(WAC):c.112del (p.Ser38fs) Deletion Pathogenic 219144 rs864321693 GRCh37: 10:28824524-28824524
GRCh38: 10:28535595-28535595
6 WAC NM_016628.5(WAC):c.1437+1G>A SNV Pathogenic 438308 rs1554791124 GRCh37: 10:28900852-28900852
GRCh38: 10:28611923-28611923
7 WAC NM_016628.5(WAC):c.374C>A (p.Ser125Ter) SNV Pathogenic 219142 rs864321692 GRCh37: 10:28872427-28872427
GRCh38: 10:28583498-28583498
8 WAC NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) SNV Pathogenic 496763 rs1554791943 GRCh37: 10:28905193-28905193
GRCh38: 10:28616264-28616264
9 WAC NM_016628.5(WAC):c.1852C>T (p.Gln618Ter) SNV Pathogenic 219143 rs864321634 GRCh37: 10:28906691-28906691
GRCh38: 10:28617762-28617762
10 WAC NM_016628.5(WAC):c.1721G>A (p.Trp574Ter) SNV Pathogenic 219140 rs864321690 GRCh37: 10:28905266-28905266
GRCh38: 10:28616337-28616337
11 WAC NM_016628.5(WAC):c.267_268dup (p.Asp90fs) Duplication Pathogenic 219141 rs864321691 GRCh37: 10:28824677-28824678
GRCh38: 10:28535748-28535749
12 WAC NM_016628.5(WAC):c.498-2A>G SNV Pathogenic 431093 rs1135401769 GRCh37: 10:28879647-28879647
GRCh38: 10:28590718-28590718
13 WAC NM_016628.5(WAC):c.1885_1886del (p.Leu629fs) Deletion Pathogenic 496764 rs1554792658 GRCh37: 10:28908473-28908474
GRCh38: 10:28619544-28619545
14 WAC NM_016628.5(WAC):c.1101dup (p.Pro368fs) Duplication Pathogenic 1030572 GRCh37: 10:28897294-28897295
GRCh38: 10:28608365-28608366
15 WAC NM_016628.5(WAC):c.1746+1G>A SNV Likely pathogenic 522961 rs1554791975 GRCh37: 10:28905292-28905292
GRCh38: 10:28616363-28616363
16 WAC NM_016628.5(WAC):c.367A>C (p.Lys123Gln) SNV Uncertain significance 1031972 GRCh37: 10:28872420-28872420
GRCh38: 10:28583491-28583491
17 WAC NM_016628.5(WAC):c.381+4_381+7del Microsatellite Uncertain significance 633580 rs1564400647 GRCh37: 10:28872434-28872437
GRCh38: 10:28583505-28583508

Expression for Desanto-Shinawi Syndrome

Search GEO for disease gene expression data for Desanto-Shinawi Syndrome.

Pathways for Desanto-Shinawi Syndrome

GO Terms for Desanto-Shinawi Syndrome

Sources for Desanto-Shinawi 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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