Search for a rare disease
Other search option(s)
Wildervanck syndrome
Disease 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.
ORPHA:3456
Classification level: DisorderSummary
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.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.