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 57 76 53 59
Cervicooculoacoustic Syndrome 57 76 53 59
Cervico-Oculo-Acoustic Dysplasia 53
Cervico-Oculo-Acoustic Syndrome 53
Wildervanck's Syndrome 73
Coa Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
wildervanck syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
most patients are female


HPO:

32
wildervanck syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 314600
Orphanet 59 ORPHA3456
MESH via Orphanet 45 C536706
UMLS via Orphanet 74 C0265239
ICD10 via Orphanet 34 Q87.8
MedGen 42 C0265239
UMLS 73 C0265239

Summaries for Wildervanck Syndrome

NIH Rare Diseases : 53 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 bone, eye and skin, and related phenotypes are short neck and facial palsy

Wikipedia : 76 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 10.9
2 dandy-walker syndrome 10.1
3 cleft palate, isolated 9.8
4 duane retraction syndrome 1 9.8
5 torticollis 9.8
6 diastematomyelia 9.8
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
8 scoliosis 9.8
9 cervicitis 9.8
10 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:

57
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

Human phenotypes related to Wildervanck Syndrome:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
3 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
4 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
5 lens subluxation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001132
6 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
7 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
8 congenital sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008527
9 fused cervical vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0002949
10 pseudopapilledema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000538
11 abducens palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0011349
12 hearing impairment 32 HP:0000365
13 preauricular skin tag 32 HP:0000384
14 abnormality of the outer ear 32 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:

41
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 with hypoplastic frontal sinus: A rare case presentation. ( 25400350 )
2014
4
Wildervanck syndrome: An uncommon cause of Duane syndrome. ( 25085228 )
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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