Wildervanck Syndrome

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.

Epidemiology

It has been described in one family with affected members through 5 generations, almost exclusively females. Single additional sporadic cases have been reported.

Clinical description

Bilateral lens subluxation, facial paralysis, atrial septal defect, scoliosis, cholelithiasis have been found occasionally.

Etiology

The causative gene has not yet been identified.

Genetic counseling

Multifactorial inheritance is likely; sex-linked dominance with lethality in the hemizygous male has been discussed.