- A dictionary of medical eponyms

Wildervanck's syndrome I

Alternative eponyms

  • Franceschetti-Klein-Wildervanck syndrome
  • Wildervanck-Waardenburg-Franceschetti-Klein syndrome

Related people

A syndrome combining fused cervical vertebrae with torticollis (Klippel-Feil syndrome) and abducens palsy with retractio bulbi (Stilling-Türk-Duane syndrome), and congenital perceptive deafness.

Description

A syndrome combining fused cervical vertebrae with torticollis (Klippel-Feil syndrome) and abducens palsy with retractio bulbi (Stilling-Türk-Duane syndrome), and congenital perceptive deafness. Associated defects may include cleft palate, dental anomalies, epibulbar epidermoids, epileptic attacks, facial hypoplasia, facial and cranial asymmetry, preauricular tags, subconjunctival lipoma, micrognathia, narrow palate, mental retardation, nystagmus, and heterochromia iridis.

The Wildervanck syndrome affects almost exclusively women. It is present from birth in approximately 1% of all female deaf mutes.

Bibliography

  • L. S. Wildervanck:
    Een geval vanaandoening val Klippel-Feil, gecombineerd med abducensparalyse, retractio bulbi en doofstomheid.
    (Kippel-Feil syndrome associated with abducens paralysis, bulbar retraction and deaf-mutism)
    Nederlandsch tijdschrift voor geneeskunde, Amsterdam, 1952, 96: 2751-3122. Een cervico-oculo-acusticus-syndroom.
    Nederlandsch tijdschrift voor geneeskunde, Amsterdam, 1960, 104: 2600-2605.
  • P. J. Waardenburg:
    Über Retractio bulbi mit Begeleiterscheinungen.
    Albrecht von Graefes Archiv für Ophthalmologie, Berlin, 1953, 154: 96-109.
  • A. Franceschetti, D. Klein:
    Dysmorphie cervico-oculo-faciale avec surdité familiale (Klippel-Feil, retractio bulbi, asymetrie cranio-faciale et autres anomalies congenitales.
    Journal de génétique humaine, Geneva, 1954, 3: 176-183.

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