MCID: DSN002
MIFTS: 23

Desanto-Shinawi Syndrome

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

Aliases & Classifications for Desanto-Shinawi Syndrome

MalaCards integrated aliases for Desanto-Shinawi Syndrome:

Name: Desanto-Shinawi Syndrome 57 75 37 29 6
Dessh 57 75
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to 10p11.21p12.31 Microdeletion 59
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due to Wac Point Mutation 59
Developmental Delay, Behavioral Abnormalities, Facial Dysmorphism, and Ocular Abnormalities 57
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome 59
10p12p11 Microdeletion Syndrome 59
Deletion 10p11.21p12.31 59
Monosomy 10p11.21p12.31 59
Del(10)(p11.21p12.31) 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
desanto-shinawi syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Desanto-Shinawi Syndrome

UniProtKB/Swiss-Prot : 75 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, is also known as dessh. An important gene associated with Desanto-Shinawi Syndrome is WAC (WW Domain Containing Adaptor With Coiled-Coil). Affiliated tissues include eye, and related phenotypes are hypertelorism and short neck

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)

Related Diseases for Desanto-Shinawi Syndrome

Symptoms & Phenotypes for Desanto-Shinawi Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
myopia
synophrys
astigmatism
more
Abdomen Gastrointestinal:
constipation
feeding difficulties

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:
delayed psychomotor development
seizures (in some patients)
thin corpus callosum (in some patients)
delayed speech

Head And Neck Neck:
short neck

Head And Neck Head:
brachycephaly

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

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

Human phenotypes related to Desanto-Shinawi Syndrome:

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 seizures 32 very rare (1%) HP:0001250
4 constipation 32 very rare (1%) HP:0002019
5 sleep disturbance 32 very rare (1%) HP:0002360
6 coarse facial features 32 HP:0000280
7 hearing impairment 32 HP:0000365
8 global developmental delay 32 very rare (1%) HP:0001263
9 depressed nasal bridge 32 HP:0005280
10 delayed speech and language development 32 HP:0000750
11 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
12 thick eyebrow 32 HP:0000574
13 brachycephaly 32 HP:0000248
14 prominent forehead 32 HP:0011220
15 full cheeks 32 HP:0000293
16 feeding difficulties 32 very rare (1%) HP:0011968
17 strabismus 32 HP:0000486
18 attention deficit hyperactivity disorder 32 HP:0007018
19 anxiety 32 HP:0000739
20 myopia 32 HP:0000545
21 inverted nipples 32 HP:0003186
22 abnormality of the pinna 32 HP:0000377
23 broad forehead 32 HP:0000337
24 deeply set eye 32 HP:0000490
25 agitation 32 HP:0000713
26 downturned corners of mouth 32 HP:0002714
27 bulbous nose 32 HP:0000414
28 thin upper lip vermilion 32 HP:0000219
29 aggressive behavior 32 HP:0000718
30 midface retrusion 32 HP:0011800
31 synophrys 32 HP:0000664
32 astigmatism 32 HP:0000483
33 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
34 generalized hypotonia 32 HP:0001290
35 posteriorly rotated ears 32 HP:0000358
36 hirsutism 32 HP:0001007

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:

41
Eye

Publications for Desanto-Shinawi Syndrome

Variations for Desanto-Shinawi Syndrome

ClinVar genetic disease variations for Desanto-Shinawi Syndrome:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 WAC NM_016628.4(WAC): c.263_266delAGAG (p.Glu88Glyfs) deletion Pathogenic rs864321689 GRCh38 Chromosome 10, 28535746: 28535749
2 WAC NM_016628.4(WAC): c.263_266delAGAG (p.Glu88Glyfs) deletion Pathogenic rs864321689 GRCh37 Chromosome 10, 28824675: 28824678
3 WAC NM_100264.2(WAC): c.1586G> A (p.Trp529Ter) single nucleotide variant Pathogenic rs864321690 GRCh38 Chromosome 10, 28616337: 28616337
4 WAC NM_100264.2(WAC): c.1586G> A (p.Trp529Ter) single nucleotide variant Pathogenic rs864321690 GRCh37 Chromosome 10, 28905266: 28905266
5 WAC NM_100264.2(WAC): c.132_133dupGG (p.Asp45Glyfs) duplication Pathogenic rs864321691 GRCh38 Chromosome 10, 28535750: 28535751
6 WAC NM_100264.2(WAC): c.132_133dupGG (p.Asp45Glyfs) duplication Pathogenic rs864321691 GRCh37 Chromosome 10, 28824679: 28824680
7 WAC NM_016628.4(WAC): c.374C> A (p.Ser125Ter) single nucleotide variant Pathogenic rs864321692 GRCh37 Chromosome 10, 28872427: 28872427
8 WAC NM_016628.4(WAC): c.374C> A (p.Ser125Ter) single nucleotide variant Pathogenic rs864321692 GRCh38 Chromosome 10, 28583498: 28583498
9 WAC NM_100264.2(WAC): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic rs864321634 GRCh38 Chromosome 10, 28617762: 28617762
10 WAC NM_100264.2(WAC): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic rs864321634 GRCh37 Chromosome 10, 28906691: 28906691
11 WAC NM_016628.4(WAC): c.112delA (p.Ser38Alafs) deletion Pathogenic rs864321693 GRCh37 Chromosome 10, 28824524: 28824524
12 WAC NM_016628.4(WAC): c.112delA (p.Ser38Alafs) deletion Pathogenic rs864321693 GRCh38 Chromosome 10, 28535595: 28535595
13 WAC NM_016628.4(WAC): c.498-2A> G single nucleotide variant Pathogenic rs1135401769 GRCh38 Chromosome 10, 28590718: 28590718
14 WAC NM_016628.4(WAC): c.498-2A> G single nucleotide variant Pathogenic rs1135401769 GRCh37 Chromosome 10, 28879647: 28879647
15 WAC NM_016628.4(WAC): c.1437+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 10, 28900852: 28900852
16 WAC NM_016628.4(WAC): c.1437+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 10, 28611923: 28611923
17 WAC NM_016628.4(WAC): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 28905193: 28905193
18 WAC NM_016628.4(WAC): c.1648C> T (p.Arg550Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 28616264: 28616264
19 WAC NG_046603.1: g.91960_91961delTT deletion Pathogenic GRCh38 Chromosome 10, 28619547: 28619548
20 WAC NG_046603.1: g.91960_91961delTT deletion Pathogenic GRCh37 Chromosome 10, 28908476: 28908477
21 WAC NM_016628.4(WAC): c.1746+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 28905292: 28905292
22 WAC NM_016628.4(WAC): c.1746+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 28616363: 28616363

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 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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