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Wildervanck syndrome

Orpha number ORPHA3456
Synonym(s) Cervico-oculo-acoustic syndrome
Prevalence -
Inheritance -
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C0265239
MeSH
  • C536706
MedDRA
  • 10069402
SNOMED CT
  • 79665007

Summary

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. It has been described in one family with affected members through 5 generations, almost exclusively females. Single additional sporadic cases have been reported. Bilateral lens subluxation, facial paralysis, atrial septal defect, scoliosis, cholelithiasis have been found occasionally. Multifactorial inheritance is likely; sex-linked dominance with lethality in the hemizygous male has been discussed. The causative gene has not yet been identified.


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