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;
Origin ID : 314600;
UMLS CUI : C0265239;
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)