SKDEAS
MCID: SKR001
MIFTS: 30

Skraban-Deardorff Syndrome (SKDEAS)

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

Aliases & Classifications for Skraban-Deardorff Syndrome

MalaCards integrated aliases for Skraban-Deardorff Syndrome:

Name: Skraban-Deardorff Syndrome 57 58 72 36 29 6
Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features 57 72
Skdeas 57 72
Intellectual Disability, Seizures, Abnormal Gait and Distinctive Facial Features 6
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome 58
Syndrome, Skraban-Deardorff 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
variable severity
de novo mutation


HPO:

31
skraban-deardorff syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Skraban-Deardorff Syndrome

OMIM® : 57 Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017). (617616) (Updated 05-Apr-2021)

MalaCards based summary : Skraban-Deardorff Syndrome, also known as intellectual disability with seizures, abnormal gait, and distinctive facial features, is related to wdr26-related intellectual disability and febrile seizures. An important gene associated with Skraban-Deardorff Syndrome is WDR26 (WD Repeat Domain 26). Affiliated tissues include brain and pineal, and related phenotypes are intellectual disability and widely spaced teeth

KEGG : 36 Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease.

UniProtKB/Swiss-Prot : 72 Skraban-Deardorff syndrome: An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip.

Related Diseases for Skraban-Deardorff Syndrome

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

# Related Disease Score Top Affiliating Genes
1 wdr26-related intellectual disability 10.4
2 febrile seizures 10.4
3 seizure disorder 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.3
5 hypotonia 10.3

Graphical network of the top 20 diseases related to Skraban-Deardorff Syndrome:



Diseases related to Skraban-Deardorff Syndrome

Symptoms & Phenotypes for Skraban-Deardorff Syndrome

Human phenotypes related to Skraban-Deardorff Syndrome:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
3 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
4 everted upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0010803
5 hyperplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0430028
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
9 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
10 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
11 increased axial length of the globe 58 31 frequent (33%) Frequent (79-30%) HP:0007800
12 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
13 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
14 mild global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011342
15 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
16 abnormality of the gingiva 58 31 frequent (33%) Frequent (79-30%) HP:0000168
17 prominent nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0005274
18 absent cupid's bow 58 31 frequent (33%) Frequent (79-30%) HP:0010800
19 delayed ability to sit 58 31 frequent (33%) Frequent (79-30%) HP:0025336
20 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
21 hypotonia 31 frequent (33%) HP:0001252
22 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
23 generalized non-motor (absence) seizure 31 frequent (33%) HP:0002121
24 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
25 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
26 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
27 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
28 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
29 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
30 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
31 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
32 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
33 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
34 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
35 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
36 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
37 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
38 tracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002779
39 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
40 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
41 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
42 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
43 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
44 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
45 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
46 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
47 osteopathia striata 58 31 occasional (7.5%) Occasional (29-5%) HP:0010740
48 cerebral hypomyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0006808
49 cranial nerve vi palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006897
50 contractures of the joints of the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0005750

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
constipation
poor feeding
gastric reflux

Head And Neck Nose:
depressed nasal bridge
anteverted nares
full nasal tip

Head And Neck Face:
full cheeks
coarse facies
micrognathia, mild
prominent maxilla

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
autistic features
repetitive behaviors

Head And Neck Ears:
otitis media, recurrent

Neurologic Central Nervous System:
global developmental delay
spastic gait
wide-based gait
dilated ventricles
delayed walking
more
Head And Neck Teeth:
widely spaced teeth

Head And Neck Eyes:
strabismus
amblyopia
sparse lateral eyebrows
rounded palpebral fissures
large appearing irises

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
prominent upper lip
cupid bow
abnormal gingiva

Clinical features from OMIM®:

617616 (Updated 05-Apr-2021)

Drugs & Therapeutics for Skraban-Deardorff Syndrome

Search Clinical Trials , NIH Clinical Center for Skraban-Deardorff Syndrome

Genetic Tests for Skraban-Deardorff Syndrome

Genetic tests related to Skraban-Deardorff Syndrome:

# Genetic test Affiliating Genes
1 Skraban-Deardorff Syndrome 29 WDR26

Anatomical Context for Skraban-Deardorff Syndrome

MalaCards organs/tissues related to Skraban-Deardorff Syndrome:

40
Brain, Pineal

Publications for Skraban-Deardorff Syndrome

Articles related to Skraban-Deardorff Syndrome:

# Title Authors PMID Year
1
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. 6 57
28686853 2017
2
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. 61
33675273 2021
3
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. 61
33506510 2021

Variations for Skraban-Deardorff Syndrome

ClinVar genetic disease variations for Skraban-Deardorff Syndrome:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR26 NM_025160.6(WDR26):c.73_74insA (p.Gly25fs) Insertion Pathogenic 488458 rs1553364018 GRCh37: 1:224621734-224621735
GRCh38: 1:224434032-224434033
2 WDR26 NM_025160.6(WDR26):c.762T>G (p.Ser254Arg) SNV Pathogenic 433011 rs150512167 GRCh37: 1:224612222-224612222
GRCh38: 1:224424520-224424520
3 WDR26 NM_025160.6(WDR26):c.1276G>T (p.Glu426Ter) SNV Pathogenic 433006 rs1553354926 GRCh37: 1:224592155-224592155
GRCh38: 1:224404453-224404453
4 WDR26 NM_025160.6(WDR26):c.904_905del (p.Gln302fs) Deletion Pathogenic 433009 rs1553359034 GRCh37: 1:224606076-224606077
GRCh38: 1:224418374-224418375
5 WDR26 NM_025160.6(WDR26):c.1161_1162del (p.His389fs) Deletion Pathogenic 433007 rs1553354980 GRCh37: 1:224592269-224592270
GRCh38: 1:224404567-224404568
6 WDR26 NM_025160.6(WDR26):c.850G>A (p.Asp284Asn) SNV Pathogenic 433010 rs1553359384 GRCh37: 1:224607232-224607232
GRCh38: 1:224419530-224419530
7 WDR26 NM_025160.6(WDR26):c.1457del (p.Val486fs) Deletion Pathogenic 433008 rs1553353378 GRCh37: 1:224586699-224586699
GRCh38: 1:224398997-224398997
8 WDR26 NM_025160.6(WDR26):c.154del (p.Asp52fs) Deletion Pathogenic 827809 rs1572227260 GRCh37: 1:224621654-224621654
GRCh38: 1:224433952-224433952
9 WDR26 NM_001379403.1(WDR26):c.1458+1G>A SNV Pathogenic 930867 GRCh37: 1:224599128-224599128
GRCh38: 1:224411426-224411426
10 WDR26 NM_001379403.1(WDR26):c.1319+1G>A SNV Pathogenic 1034092 GRCh37: 1:224605961-224605961
GRCh38: 1:224418259-224418259
11 WDR26 NM_001115113.3(WDR26):c.1624_1625AG[1] (p.Arg542fs) Microsatellite Pathogenic/Likely pathogenic 801625 rs1572163072 GRCh37: 1:224585898-224585899
GRCh38: 1:224398196-224398197
12 WDR26 NM_025160.6(WDR26):c.1237G>A (p.Asp413Asn) SNV Likely pathogenic 446242 rs1553354952 GRCh37: 1:224592194-224592194
GRCh38: 1:224404492-224404492
13 WDR26 NM_025160.6(WDR26):c.1225T>G (p.Trp409Gly) SNV Likely pathogenic 446243 rs1553354956 GRCh37: 1:224592206-224592206
GRCh38: 1:224404504-224404504
14 WDR26 NM_025160.6(WDR26):c.1394G>T (p.Gly465Val) SNV Likely pathogenic 801626 rs1572168244 GRCh37: 1:224588677-224588677
GRCh38: 1:224400975-224400975
15 WDR26 NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln) SNV Likely pathogenic 983152 GRCh37: 1:224586627-224586627
GRCh38: 1:224398925-224398925
16 WDR26 NM_025160.6(WDR26):c.836G>A (p.Arg279Gln) SNV Uncertain significance 689634 rs774272467 GRCh37: 1:224607246-224607246
GRCh38: 1:224419544-224419544
17 WDR26 NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln) SNV Uncertain significance 996856 GRCh37: 1:224586245-224586245
GRCh38: 1:224398543-224398543
18 WDR26 NM_001379403.1(WDR26):c.1036A>C (p.Asn346His) SNV Uncertain significance 1030910 GRCh37: 1:224612248-224612248
GRCh38: 1:224424546-224424546
19 WDR26 NM_001379403.1(WDR26):c.1045C>T (p.Arg349Cys) SNV Uncertain significance 1030911 GRCh37: 1:224612239-224612239
GRCh38: 1:224424537-224424537
20 WDR26 NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg) SNV Uncertain significance 931463 GRCh37: 1:224605964-224605964
GRCh38: 1:224418262-224418262
21 WDR26 NM_001379403.1(WDR26):c.1468C>G (p.Leu490Val) SNV Uncertain significance 983017 GRCh37: 1:224592263-224592263
GRCh38: 1:224404561-224404561

Expression for Skraban-Deardorff Syndrome

Search GEO for disease gene expression data for Skraban-Deardorff Syndrome.

Pathways for Skraban-Deardorff Syndrome

GO Terms for Skraban-Deardorff Syndrome

Sources for Skraban-Deardorff 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
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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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