MCID: WLD004
MIFTS: 28

Wildervanck Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Wildervanck Syndrome

MalaCards integrated aliases for Wildervanck Syndrome:

Name: Wildervanck Syndrome 57 73 20 58
Cervicooculoacoustic Syndrome 57 73 20 58
Cervico-Oculo-Acoustic Dysplasia 20
Cervico-Oculo-Acoustic Syndrome 20
Wildervanck's Syndrome 70
Coa Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
wildervanck syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
isolated cases

Miscellaneous:
most patients are female


HPO:

31
wildervanck syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 314600
MESH via Orphanet 45 C536706
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C0265239
Orphanet 58 ORPHA3456
MedGen 41 C0265239
UMLS 70 C0265239

Summaries for Wildervanck Syndrome

GARD : 20 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.

MalaCards based summary : Wildervanck Syndrome, also known as cervicooculoacoustic syndrome, is related to klippel-feil syndrome and branchiootic syndrome 1. An important gene associated with Wildervanck Syndrome is FGF13 (Fibroblast Growth Factor 13). Affiliated tissues include eye, heart and cortex, and related phenotypes are short neck and congenital sensorineural hearing impairment

Wikipedia : 73 Wildervanck syndrome or cervico-oculo-acoustic syndrome comprises a triad... more...

More information from OMIM: 314600

Related Diseases for Wildervanck Syndrome

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 11.1
2 branchiootic syndrome 1 10.3
3 coloboma of macula 10.3
4 duane retraction syndrome 1 10.3
5 abducens palsy 10.2
6 duane retraction syndrome 10.2
7 isolated duane retraction syndrome 10.2
8 dandy-walker syndrome 10.1
9 monocular esotropia 10.1
10 facial paralysis 10.1
11 esotropia 10.1
12 coloboma of iris 10.1
13 cleft palate, isolated 10.1
14 strabismus 10.1
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
16 ptosis 10.1
17 sensorineural hearing loss 10.1
18 abducens nerve disease 10.1
19 mechanical strabismus 10.1
20 torticollis 9.9
21 diastematomyelia 9.9
22 scoliosis 9.9
23 cerebellar hypoplasia 9.9
24 microcephaly 9.9
25 hydrocephalus 9.9
26 myopia 9.9
27 heart septal defect 9.9
28 atrial heart septal defect 9.9
29 ankylosis 9.9
30 mutism 9.9
31 chiari malformation 9.9

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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 congenital sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008527
3 fused cervical vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0002949
4 abducens palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0011349
5 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
6 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
7 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
8 lens subluxation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001132
9 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
10 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
11 pseudopapilledema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000538
12 hearing impairment 31 HP:0000365
13 preauricular skin tag 31 HP:0000384
14 abnormality of the outer ear 31 HP:0000356

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye, Heart, Cortex

Publications for Wildervanck Syndrome

Articles related to Wildervanck Syndrome:

(show all 39)
# Title Authors PMID Year
1
Xq26.3 microdeletion in a male with Wildervanck Syndrome. 61 57
23373430 2014
2
Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. 61 57
12002143 2002
3
Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. 57 61
6689909 1984
4
X-linked dominant inherited diseases with lethality in hemizygous males. 57 61
6873941 1983
5
Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis. 57
6601715 1983
6
Cervico-oculo-acusticus syndrome with pseudopapilloedema. 57
5803643 1969
7
Duane's syndrome and familial perceptive deafness. 57
5772619 1969
8
Deafness and the Klippel-Feil syndrome. 57
5787425 1969
9
Cervico-oculo-acoustic dysplasia. ("The syndrome of Wildervanck"). 57
4894186 1968
10
Radiological examination of the inner ear of deaf-mutes presenting the cervico-oculo-acusticus syndrome. 57
5915899 1966
11
WILDERVANCK'S SYNDROME. KLIPPEL-FEIL'S SYNDROME ASSOCIATED WITH DEAFNESS AND RETRACTION OF THE EYEBALL. 57
14044853 1963
12
[A cervico-oculo-acoustic nerve syndrome]. 57
13785254 1960
13
Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation. 61
32159401 2020
14
Findings in a patient with Wildervanck syndrome. 61
24997129 2015
15
Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS). 61
26076792 2015
16
Wildervanck syndrome: an uncommon cause of Duane syndrome. 61
25085228 2014
17
Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery. 61
24576452 2014
18
Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation. 61
25400350 2014
19
Cervico-oculo-acoustic (Wildervanck) syndrome: clinicoradiological findings. 61
23616324 2013
20
Ultrasound-assisted spinal anaesthesia in a patient with Wildervanck syndrome and congenital abnormalities of the lumbar spine. 61
22782985 2012
21
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. 61
22258531 2012
22
Wildervanck syndrome associated with cleft palate and short stature. 61
20534924 2010
23
Vertebral artery dissection in a patient with Wildervanck syndrome. 61
18725072 2008
24
Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case report. 61
17721033 2007
25
Isolated atlantal stenosis in a patient with idiopathic growth hormone deficiency, and Klippel-Feil and Duane's syndromes. 61
15133703 2005
26
Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome? 61
11391660 2001
27
[Wildervanck syndrome, cervico-oculo-acoustic syndrome]. 61
11057221 2000
28
Persistent mirror movements: functional MR imaging of the hand motor cortex. 61
9114119 1997
29
Wildervanck syndrome. 61
8687351 1996
30
Wildervanck syndrome (cervico-oculo-acoustic syndrome). 61
1307589 1992
31
CT of severe inner ear anomalies, including aplasia, in a case of Wildervanck syndrome. 61
1595443 1992
32
An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses. 61
2080998 1990
33
Oculoauriculovertebral spectrum: an updated critique. 61
2680167 1989
34
[Diagnosis and operative sequela of rare abnormalities of the inner ear]. 61
3700143 1986
35
Wildervanck syndrome--the external appearance and radiologic findings. 61
6480241 1984
36
The Wildervanck syndrome: cervico-oculo-acoustic dysplasia. 61
119202 1979
37
[The Wildervanck syndrome]. 61
5038559 1972
38
Inner ear histopathology in genetically determined congenital deafness. 61
5173349 1971
39
[Congenital deaf-mutism and malformations of the occipital-cervical bones (Wildervanck syndrome)]. 61
5660945 1968

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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