MCID: WLD004
MIFTS: 28

Wildervanck Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Wildervanck Syndrome

MalaCards integrated aliases for Wildervanck Syndrome:

Name: Wildervanck Syndrome 58 77 54 60
Cervicooculoacoustic Syndrome 58 77 54 60
Cervico-Oculo-Acoustic Dysplasia 54
Cervico-Oculo-Acoustic Syndrome 54
Wildervanck's Syndrome 74
Coa Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
wildervanck syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
most patients are female


HPO:

33
wildervanck syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 58 314600
MESH via Orphanet 46 C536706
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C0265239
Orphanet 60 ORPHA3456
MedGen 43 C0265239
UMLS 74 C0265239

Summaries for Wildervanck Syndrome

NIH Rare Diseases : 54 Wildervanck syndromeis a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss. Wildervanck syndrome occurs primarily in females. In most cases, Wildervanck syndrome occurs randomly for unknown reasons in a family with no prior history (sporadically), though a deletion on the X chromosome was identified in one individual with Wildervanck syndrome. X-linked dominant inheritance has been suggested due to the high prevalence of affected females. Treatment is specific to each symptom and may include physical therapy, surgical intervention for skeletal, ocular, auditory, and cardiac abnormalities, and utilization of hearing aids.

MalaCards based summary : Wildervanck Syndrome, also known as cervicooculoacoustic syndrome, is related to klippel-feil syndrome and dandy-walker syndrome. An important gene associated with Wildervanck Syndrome is FGF13 (Fibroblast Growth Factor 13). Affiliated tissues include eye, bone and skin, and related phenotypes are short neck and congenital sensorineural hearing impairment

Wikipedia : 77 Wildervanck syndrome or cervico-oculo-acoustic syndrome comprises a triad... more...

Description from OMIM: 314600

Related Diseases for Wildervanck Syndrome

Diseases related to Wildervanck Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 11.1
2 dandy-walker syndrome 10.3
3 cleft palate, isolated 10.0
4 duane retraction syndrome 1 10.0
5 torticollis 10.0
6 diastematomyelia 10.0
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
8 scoliosis 10.0
9 ptosis 10.0
10 split spinal cord malformation 10.0

Graphical network of the top 20 diseases related to Wildervanck Syndrome:



Diseases related to Wildervanck Syndrome

Symptoms & Phenotypes for Wildervanck Syndrome

Human phenotypes related to Wildervanck Syndrome:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 congenital sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008527
3 fused cervical vertebrae 60 33 hallmark (90%) Very frequent (99-80%) HP:0002949
4 abducens palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0011349
5 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
6 webbed neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000465
7 low posterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0002162
8 lens subluxation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001132
9 meningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002435
10 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
11 pseudopapilledema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000538
12 hearing impairment 33 HP:0000365
13 preauricular skin tag 33 HP:0000384
14 abnormality of the outer ear 33 HP:0000356

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
facial asymmetry

Head And Neck Ears:
preauricular tags
ear anomalies
sensorineural, conductive, or mixed hearing loss

Head And Neck Eyes:
pseudopapilledema
duane syndrome (abducens palsy with retracted globe)

Head And Neck Neck:
short, webbed neck
klippel-feil anomaly (fused cervical vertebrae)

Clinical features from OMIM:

314600

Drugs & Therapeutics for Wildervanck Syndrome

Search Clinical Trials , NIH Clinical Center for Wildervanck Syndrome

Genetic Tests for Wildervanck Syndrome

Anatomical Context for Wildervanck Syndrome

MalaCards organs/tissues related to Wildervanck Syndrome:

42
Eye, Bone, Skin, Spinal Cord

Publications for Wildervanck Syndrome

Articles related to Wildervanck Syndrome:

(show all 17)
# Title Authors Year
1
Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS). ( 26076792 )
2015
2
Findings in a patient with Wildervanck syndrome. ( 24997129 )
2015
3
Xq26.3 microdeletion in a male with Wildervanck Syndrome. ( 23373430 )
2014
4
Wildervanck syndrome: an uncommon cause of Duane syndrome. ( 25085228 )
2014
5
Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation. ( 25400350 )
2014
6
Cervico-oculo-acoustic (Wildervanck) syndrome: clinicoradiological findings. ( 23616324 )
2013
7
Ultrasound-assisted spinal anaesthesia in a patient with Wildervanck syndrome and congenital abnormalities of the lumbar spine. ( 22782985 )
2012
8
Wildervanck syndrome associated with cleft palate and short stature. ( 20534924 )
2010
9
Vertebral artery dissection in a patient with Wildervanck syndrome. ( 18725072 )
2008
10
Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case report. ( 17721033 )
2007
11
Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. ( 12002143 )
2002
12
Wildervanck syndrome. ( 8687351 )
1996
13
Wildervanck syndrome (cervico-oculo-acoustic syndrome). ( 1307589 )
1992
14
CT of severe inner ear anomalies, including aplasia, in a case of Wildervanck syndrome. ( 1595443 )
1992
15
Wildervanck syndrome--the external appearance and radiologic findings. ( 6480241 )
1984
16
Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. ( 6689909 )
1984
17
The Wildervanck syndrome: cervico-oculo-acoustic dysplasia. ( 119202 )
1979

Variations for Wildervanck Syndrome

Expression for Wildervanck Syndrome

Search GEO for disease gene expression data for Wildervanck Syndrome.

Pathways for Wildervanck Syndrome

GO Terms for Wildervanck Syndrome

Sources for Wildervanck 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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