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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
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Sporadic (HPO, OMIM)
SNOMED CT: Wildervanck syndrome (79665007); Wildervanck's syndrome (79665007); Cervico-oculofacial syndrome (79665007)
 
OMIM®: 314600
Orphanet: ORPHA3456

Clinical features

Abnormality of the outer ear
MedGen UID:
335428
Concept ID:
C1846460
Anatomical Abnormality
An abnormality of the external ear.

Term Hierarchy

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

Recent clinical studies

Etiology

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

Laban NB, Tasic VB, Danilovski D, Polenakovic M, Gucev ZS
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015;36(1):209-11. PMID: 26076792
Rihani FB
BMJ Case Rep 2013 Apr 23;2013 doi: 10.1136/bcr-2013-009065. PMID: 23616324Free PMC Article
Dirik E, Yiş U, Dirik MA, Cakmakçi H, Men S
Pediatr Neurol 2008 Sep;39(3):218-20. doi: 10.1016/j.pediatrneurol.2008.06.005. PMID: 18725072
Oe K, Mori K, Konno T, Yoneda T, Ueyama K, Yamagishi M
Circ J 2007 Sep;71(9):1485-7. PMID: 17721033
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

Recent systematic reviews

Wettke-Schäfer R, Kantner G
Hum Genet 1983;64(1):1-23. PMID: 6873941

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