OMIM ID:
Wildervanck Syndrome
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
The ocular manifestations of this disorder are limited to Duane syndrome and abducens palsy.
Systemic Features
Congenital perceptive deafness is due to a bony malformation of the inner ear. A Klippel-Feil cervical malformation consisting of a low hairline, limited neck mobility, and short neck secondary to cervical fusion (usually involving the atlas and axis) is present as well. The presence of neck webbing (pterygium colli) can exaggerates the short neck appearance. Diastematomyelia of the lower medulla and cervical cord has been reported in a child who also had tonsillar herniation and hydrocephalus of all three ventricles.
A variety of inconsistent anomalies including spine deformities, cardiac malformations, anomalies of the genitourinary system and somatic growth retardation have also been reported.
The KFS malformation can occur alone or in association with other syndromes.
Genetics
Inheritance
This is a heritable syndrome that affects primarily females. The inheritance pattern, however, is not clear. Sex-linked dominance with lethality in the male has been proposed but others have suggested multifactorial inheritance. Most cases occur sporadically and no responsible genes have been identified.