MCID: WLD004
MIFTS: 24

Wildervanck Syndrome malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Wildervanck Syndrome

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Sources:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Wildervanck Syndrome:

Name: Wildervanck Syndrome 51 47 53
Cervico-Oculo-Acoustic Syndrome 47 53
Cervico-Oculo-Acoustic Dysplasia 47
 
Cervicooculoacoustic Syndrome 47
Wildervanck's Syndrome 67
Coa Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
wildervanck syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM51 314600
Orphanet53 ORPHA3456
MESH via Orphanet39 C536706
UMLS via Orphanet68 C0265239
ICD10 via Orphanet30 Q87.8

Summaries for Wildervanck Syndrome

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NIH Rare Diseases:47 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 diastematomyelia and scoliosis, 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:70 Wildervanck syndrome is a developmental disorder that may be characterized by accessory tragi. more...

Description from OMIM:51 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
1diastematomyelia9.8
2scoliosis9.8
3cervicitis9.8
4aneurysm9.8

Symptoms for Wildervanck Syndrome

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Symptoms by clinical synopsis from OMIM:

314600

Clinical features from OMIM:

314600

Human phenotypes related to Wildervanck Syndrome:

 63 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 hallmark (90%) HP:0000407
2 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
3 vertebral segmentation defect63 hallmark (90%) HP:0003422
4 facial asymmetry63 53 occasional (7.5%) Occasional (29-5%) HP:0000324
5 webbed neck63 53 occasional (7.5%) Occasional (29-5%) HP:0000465
6 optic atrophy63 occasional (7.5%) HP:0000648
7 ectopia lentis63 occasional (7.5%) HP:0001083
8 low posterior hairline63 53 occasional (7.5%) Occasional (29-5%) HP:0002162
9 meningocele63 53 occasional (7.5%) Occasional (29-5%) HP:0002435
10 facial palsy63 53 occasional (7.5%) Occasional (29-5%) HP:0010628
11 abnormality of the outer ear63 HP:0000356
12 hearing impairment63 HP:0000365
13 preauricular skin tag63 HP:0000384
14 pseudopapilledema63 53 Occasional (29-5%) HP:0000538
15 fused cervical vertebrae63 53 Very frequent (99-80%) HP:0002949
16 lens subluxation53 Occasional (29-5%)
17 congenital sensorineural hearing impairment53 Very frequent (99-80%)
18 abducens palsy53 Very frequent (99-80%)

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:

35
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet