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Wildervanck syndrome

MedGen UID:
120518
Concept ID:
C0265239
Disease or Syndrome
Synonyms: Cervico-oculo-acoustic dysplasia; Cervico-oculo-acoustic syndrome; COA Syndrome; Wildervanck's syndrome
SNOMED CT: Wildervanck syndrome (79665007); Wildervanck's syndrome (79665007); Cervico-oculofacial syndrome (79665007); Cervicooculoacoustic syndrome (79665007)
 
Monarch Initiative: MONDO:0010759
OMIM®: 314600
Orphanet: ORPHA3456

Definition

Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness. [from ORDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Abnormality of the outer ear
MedGen UID:
335428
Concept ID:
C1846460
Anatomical Abnormality
An abnormality of the external ear.
Abducens nerve palsy
MedGen UID:
1645218
Concept ID:
C4551519
Disease or Syndrome
Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.
Fused cervical vertebrae
MedGen UID:
854386
Concept ID:
C3887527
Congenital Abnormality
A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Pseudopapilledema
MedGen UID:
57603
Concept ID:
C0155300
Disease or Syndrome
Apparent optic disc swelling in the absence of increased intracranial pressure.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWildervanck syndrome
Follow this link to review classifications for Wildervanck syndrome in Orphanet.

Professional guidelines

PubMed

Tian W, Chen N, Ye Y, Ma C, Qin C, Niu Y, Xiaoxin L, Zhao L, Zhao H, Liang Z, Song S, Wang Y, Chen Z, Lin J, Yan Z, Duan J, Zhao S, Zhang TJ, Qiu G, Wu Z, Wu N, Zhu L
J Hum Genet 2022 Jun;67(6):347-352. Epub 2022 Jan 13 doi: 10.1038/s10038-021-00996-w. PMID: 35022528
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT
Pediatr Res 2005 Nov;58(5):981-6. Epub 2005 Sep 23 doi: 10.1203/01.PDR.0000182593.95441.64. PMID: 16183809
Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ
Am J Hum Genet 2003 Jul;73(1):74-85. Epub 2003 Jun 3 doi: 10.1086/376436. PMID: 12789647Free PMC Article

Recent clinical studies

Etiology

Sekulic S, Lemajic-Komazec S, Sokolovac I, Topalidou A, Gouni O, Petkovic B, Martac L, Kekovic G, Redzek-Mudrinic T, Capo I
Fetal Pediatr Pathol 2021 Dec;40(6):674-684. Epub 2020 Mar 11 doi: 10.1080/15513815.2020.1737993. PMID: 32159401
Hernando M, Urbasos M, Amarillo VE, Herrera MT, García-Peces V, Plaza G
Int J Pediatr Otorhinolaryngol 2014 Apr;78(4):704-6. Epub 2014 Feb 7 doi: 10.1016/j.ijporl.2014.01.036. PMID: 24576452

Diagnosis

Chima-Galán MDC, Sánchez-Beltrán NA, García-Ortiz L
Arch Argent Pediatr 2023 Jun 1;121(3):e202202624. Epub 2022 Nov 24 doi: 10.5546/aap.2022-02624.eng. PMID: 36413195
Laban NB, Tasic VB, Danilovski D, Polenakovic M, Gucev ZS
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(1):209-11. doi: 10.1515/prilozi-2015-0047. PMID: 26076792
Hernando M, Urbasos M, Amarillo VE, Herrera MT, García-Peces V, Plaza G
Int J Pediatr Otorhinolaryngol 2014 Apr;78(4):704-6. Epub 2014 Feb 7 doi: 10.1016/j.ijporl.2014.01.036. PMID: 24576452
Rihani FB
BMJ Case Rep 2013 Apr 23;2013 doi: 10.1136/bcr-2013-009065. PMID: 23616324Free PMC Article
Gupte G, Mahajan P, Shreenivas VK, Kher A, Bharucha BA
J Postgrad Med 1992 Oct-Dec;38(4):180-2. PMID: 1307589

Clinical prediction guides

Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Geneviève D
Eur J Hum Genet 2012 May;20(5):580-3. Epub 2012 Jan 18 doi: 10.1038/ejhg.2011.243. PMID: 22258531Free PMC Article
Pfeiffer RA, Rott HD, Angerstein W
Genet Couns 1990;1(2):133-40. PMID: 2080998

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