MCID: WLD004
MIFTS: 29

Wildervanck Syndrome

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Wildervanck Syndrome

MalaCards integrated aliases for Wildervanck Syndrome:

Name: Wildervanck Syndrome 53 72 49 55
Cervicooculoacoustic Syndrome 53 72 49 55
Cervico-Oculo-Acoustic Dysplasia 49
Cervico-Oculo-Acoustic Syndrome 49
Wildervanck's Syndrome 69
Coa Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
wildervanck syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
isolated cases

Miscellaneous:
most patients are female


HPO:

31
wildervanck syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 53 314600
Orphanet 55 ORPHA3456
UMLS via Orphanet 70 C0265239
MESH via Orphanet 42 C536706
ICD10 via Orphanet 33 Q87.8
MedGen 39 C0265239
UMLS 69 C0265239

Summaries for Wildervanck Syndrome

NIH Rare Diseases : 49 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. Last updated: 5/4/2016

MalaCards based summary : Wildervanck Syndrome, also known as cervicooculoacoustic syndrome, is related to klippel-feil syndrome and cleft palate, isolated, and has symptoms including short neck, facial palsy and webbed neck. An important gene associated with Wildervanck Syndrome is FGF13 (Fibroblast Growth Factor 13). Affiliated tissues include bone, eye and skin.

Wikipedia : 72 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 11.0
2 cleft palate, isolated 9.8
3 duane retraction syndrome 1 9.8
4 torticollis 9.8
5 diastematomyelia 9.8
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
7 scoliosis 9.8
8 cervicitis 9.8
9 aneurysm 9.8

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



Diseases related to Wildervanck Syndrome

Symptoms & Phenotypes for Wildervanck Syndrome

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckFace:
facial asymmetry

HeadAndNeckEars:
preauricular tags
ear anomalies
sensorineural, conductive, or mixed hearing loss

HeadAndNeckEyes:
pseudopapilledema
duane syndrome (abducens palsy with retracted globe)

HeadAndNeckNeck:
short, webbed neck
klippel-feil anomaly (fused cervical vertebrae)


Clinical features from OMIM:

314600

Human phenotypes related to Wildervanck Syndrome:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 facial palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0010628
3 webbed neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000465
4 low posterior hairline 55 31 occasional (7.5%) Occasional (29-5%) HP:0002162
5 lens subluxation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001132
6 meningocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002435
7 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
8 congenital sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0008527
9 fused cervical vertebrae 55 31 hallmark (90%) Very frequent (99-80%) HP:0002949
10 pseudopapilledema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000538
11 abducens palsy 55 31 hallmark (90%) Very frequent (99-80%) HP:0011349
12 hearing impairment 31 HP:0000365
13 preauricular skin tag 31 HP:0000384
14 abnormality of the outer ear 31 HP:0000356

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:

38
Bone, Eye, Skin

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 )
2014
3
Wildervanck syndrome: An uncommon cause of Duane syndrome. ( 25085228 )
2014
4
Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation. ( 25400350 )
2014
5
Cervico-oculo-acoustic (Wildervanck) syndrome: clinicoradiological findings. ( 23616324 )
2013
6
Xq26.3 Microdeletion in a Male with Wildervanck Syndrome. ( 23373430 )
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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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