" /> Wildervanck syndrome - CISMeF





Preferred Label : Wildervanck syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cervicooculoacoustic syndrome;

Description : The Wildervanck syndrome consists of congenital perceptive deafness, Klippel-Feil anomaly (see 118100), and abducens palsy with retractio bulbi (Duane syndrome). The disorder is limited, or almost completely limited, to females, raising the question of sex-linked dominance with lethality in the hemizygous male. This syndrome (at least profound childhood deafness and Klippel-Feil malformation) may be responsible for at least 1% of deafness among females. The deafness is perceptive and has been shown by radiologic studies to be due to a bony malformation of the inner ear. Kirkham (1969) described a family which was affected through 5 generations with perceptive deafness and in which 2 members had Duane syndrome. Konigsmark and Gorlin (1976) favored multifactorial inheritance. Wildervanck (1978) gave an extensive review of the subject and concluded that polygenic inheritance with limitation to females is most likely. Balci et al. (2002) reported a child with Wildervanck syndrome with the following findings on MRI: diastematomyelia of the lower medulla and cervical cord accompanied by vermian hypoplasia, tonsillar herniation, and resulting triventricular hydrocephalus. The authors suggested that children with Wildervanck syndrome should be investigated for craniospinal abnormalities by MRI. *FIELD* SA Cremers et al. (1984); Everberg et al. (1963); Fraser and MacGillivray (1968); Kirkham (1969); McLay and Maran (1969); Strisciuglio et al. (1983); Wettke-Schafer and Kantner (1983); Wildervanck (1960); Wildervanck et al. (1966) *FIELD* RF 1. Balci, S.; Oguz, K. K.; Firat, M. M.; Boduroglu, K.: Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. Clin. Dysmorph. 11: 125-128, 2002. 2. Cremers, C. W. R. J.; Hoogland, G. A.; Kuypers, W.: Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. Arch. Otolaryng. 110: 54-57, 1984. 3. Everberg, G.; Ratjen, E.; Sorensen, H.: Wildervanck's syndrome: Klippel-Feil's syndrome associated with deafness and retraction of the eyeball. Brit. J. Radiol. 36: 562-567, 1963. 4. Fraser, W. I.; MacGillivray, R. C.: Cervico-oculo-acoustic dysplasia ('the syndrome of Wildervanck'). J. Ment. Defic. Res. 12: 322-329, 1968. 5. Kirkham, T. H.: Cervico-oculo-acusticus syndrome with pseudopapilloedema. Arch. Dis. Child. 44: 504-508, 1969. 6. Kirkham, T. H.: Duane's syndrome and familial perceptive deafness. Brit. J. Ophthal. 53: 335-339, 1969. 7. Konigsmark, B. W.; Gorlin, R. J.: Genetic and Metabolic Deafness. Philadelphia: W. B. Saunders (pub.) 1976. P. 189. 8. McLay, K.; Maran, A. G. D.: Deafness and the Klippel-Feil syndrome. J. Laryng. 83: 175-184, 1969. 9. Strisciuglio, P.; Raia, V.; Di Meo, A.; Rinaldi, E.; Andria, G. : Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis. J. Med. Genet. 20: 72-73, 1983. 10. Wettke-Schafer, R.; Kantner, G.: X-linked dominant inherited diseases with lethality in hemizygous males. Hum. Genet. 64: 1-23, 1983. 11. Wildervanck, L. S.: Een Cervico-oculo-acusticussyndroom. Nederl. T. Geneesk. 104: 2600-2605, 1960. 12. Wildervanck, L. S.: The cervico-oculo-acusticus syndrome.In: Vinken, P. J.; Bruyn, G. W.; Myranthopoulos, N. C.: Handbook of Clinical Neurology. Amsterdam: North Holland (pub.) 32: 1978. Pp. 123-130. 13. Wildervanck, L. S.; Hoeksema, P. E.; Penning, L.: Radiological examination of the inner ear of deaf-mutes presenting the cervico-oculo-acusticus syndrome. Acta Otolaryng. 61: 445-453, 1966. *FIELD* CS Isolated cases;

Inheritance : Isolated cases;

Prefixed ID : %314600;

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01/11/2024


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