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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.
ORPHA:3456Classification level: Disorder
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.
The causative gene has not yet been identified.
Multifactorial inheritance is likely; sex-linked dominance with lethality in the hemizygous male has been discussed.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
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