MCID: WLD004
MIFTS: 26

Wildervanck Syndrome malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Wildervanck Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Wildervanck Syndrome:

Name: Wildervanck Syndrome 50 46 52
Cervico-Oculo-Acoustic Syndrome 46 52
Cervico-Oculo-Acoustic Dysplasia 46
 
Cervicooculoacoustic Syndrome 46
Wildervanck's Syndrome 66
Coa Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
wildervanck syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM50 314600
Orphanet52 ORPHA3456
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C536706
UMLS via Orphanet67 C0265239

Summaries for Wildervanck Syndrome

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NIH Rare Diseases:46 Wildervanck syndrome is 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. last updated: 5/4/2016

MalaCards based summary: Wildervanck Syndrome, also known as cervico-oculo-acoustic syndrome, is related to dandy-walker syndrome and klippel-feil syndrome, and has symptoms including sensorineural hearing impairment, short neck and vertebral segmentation defect. An important gene associated with Wildervanck Syndrome is FGF13 (Fibroblast Growth Factor 13). Affiliated tissues include bone, eye and skin.

Wikipedia:69 Wildervanck syndrome is a developmental disorder that may be characterized by accessory tragi. more...

Description from OMIM:50 314600

Related Diseases for Wildervanck Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1dandy-walker syndrome10.2
2klippel-feil syndrome10.0
3diastematomyelia9.9
4scoliosis9.9
5cervicitis9.9
6aneurysm9.9

Graphical network of diseases related to Wildervanck Syndrome:



Diseases related to wildervanck syndrome

Symptoms for Wildervanck Syndrome

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Symptoms by clinical synopsis from OMIM:

314600

Clinical features from OMIM:

314600

Symptoms:

 52 (show all 11)
  • facial asymmetry
  • webbed neck
  • short neck
  • pseudopapilledema
  • lens subluxation
  • low posterior hairline
  • meningocele
  • fused cervical vertebrae
  • congenital sensorineural hearing impairment
  • facial palsy
  • abducens palsy

HPO human phenotypes related to Wildervanck Syndrome:

(show all 17)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 short neck hallmark (90%) HP:0000470
3 vertebral segmentation defect hallmark (90%) HP:0003422
4 facial asymmetry occasional (7.5%) HP:0000324
5 webbed neck occasional (7.5%) HP:0000465
6 optic atrophy occasional (7.5%) HP:0000648
7 ectopia lentis occasional (7.5%) HP:0001083
8 low posterior hairline occasional (7.5%) HP:0002162
9 meningocele occasional (7.5%) HP:0002435
10 facial palsy occasional (7.5%) HP:0010628
11 facial asymmetry HP:0000324
12 abnormality of the outer ear HP:0000356
13 hearing impairment HP:0000365
14 preauricular skin tag HP:0000384
15 webbed neck HP:0000465
16 pseudopapilledema HP:0000538
17 fused cervical vertebrae HP:0002949

UMLS symptoms related to Wildervanck Syndrome:


ophthalmoplegia

Drugs & Therapeutics for Wildervanck Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wildervanck Syndrome

Genetic Tests for Wildervanck Syndrome

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Anatomical Context for Wildervanck Syndrome

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MalaCards organs/tissues related to Wildervanck Syndrome:

34
Bone, Eye, Skin

Animal Models for Wildervanck Syndrome or affiliated genes

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Publications for Wildervanck Syndrome

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Articles related to Wildervanck Syndrome:

(show all 17)
idTitleAuthorsYear
1
Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS). (26076792)
2015
2
Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation. (25400350)
2014
3
Findings in a Patient with Wildervanck Syndrome. (24997129)
2014
4
Wildervanck syndrome: An uncommon cause of Duane syndrome. (25085228)
2014
5
Xq26.3 Microdeletion in a Male with Wildervanck Syndrome. (23373430)
2013
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
CT of severe inner ear anomalies, including aplasia, in a case of Wildervanck syndrome. (1595443)
1992
14
Wildervanck syndrome (cervico-oculo-acoustic syndrome). (1307589)
1992
15
Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. (6689909)
1984
16
Wildervanck syndrome--the external appearance and radiologic findings. (6480241)
1984
17
The Wildervanck syndrome: cervico-oculo-acoustic dysplasia. (119202)
1979

Variations for Wildervanck Syndrome

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Expression for genes affiliated with Wildervanck Syndrome

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Search GEO for disease gene expression data for Wildervanck Syndrome.

Pathways for genes affiliated with Wildervanck Syndrome

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GO Terms for genes affiliated with Wildervanck Syndrome

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Sources for Wildervanck Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet