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Klein-Waardenburg syndrome

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A hereditary congenital defect involving pigmentation. It consists of a white forelock, vitiligo, partial or total heterochromic irides, hyperplastic broad high nasal root, lateral displacement of the medial canthi and lacrimal points, hyperplasia of the median portion of the eyebrows, congenital or partial (unilateral) deafness (15-20 % of affected persons). Although the most serious defect in this syndrome is congenital deafness, it is seldom accepted and mentioned by patients. A conspicuous feature is two different coloured eyes.

No sex preference; reported in all ethnic groups. Transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Both sexes transmit these characteristics; in particular, there is father-to-son transmission.

van der Hoeve in 1913 observed and described a lateral position of the lacrimal points and shortened eyelid slit in identical deaf mute twins. In August 1947 Klein presented a deaf mute child to the Swiss Society of Genetics. The child, who was 10 years of age, had partial albinism of the hair and body, blue, hypoplastic rides, blepharophimosis and malformation of arms. He gave a full report of his findings inn 1950. Waardenburg gave an account of a deaf adult with similar facial features in December 1948, followed by a detailed review in 1951. Waardenburg described the syndrome as a distinct entity and found the anomalies in 12 of 840 deaf mutes.

The Waardenburg syndrome occurs in two forms, with (type 1) and without dystopia canthorum (type 2). Klein-Waardenburg is Waardenburg type 1 associated with upper limb abnormalities. A variant of this syndrome combining Hirschprung's disease and pigmentary anomaly syndrome is known as Shah-Waardenburg syndrome.


  • J. van der Hoeve:
    Augenanomalien bei kongenital-familiärer Taubheit und bei Labyrintherkrankung.
    Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1913, 51: 461-470. Abnorme Länge der Tränenröhrknochen mit Ankyloblepharon.
    Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1916, 56: 232-238.
  • F. A. van der Breggen:
    Een familiare oogafwijking en een aangeboren symmetrische misforming van handen en voeten.
    Nederlandsch Tijdschrift voor Geneeskunde, Amsterdam, 1915, 59: 1874-1876.
  • I. Mende:
    Über eine Familie hereditär-degenerativer Taubstummheit mit mongoloidem Einschlag und teilweiser Leukismus der Haut und Haare.
    Archiv für Kinderheilkunde, Stuttgart, 1926, 79: 214-222.
  • V. Gualdi:
    Anomalie di conformazione reditaria e familiare del naso e suoi rapporti con le affezioni delle vie lacrimale.
    Bollettino d'oculistica, Bologna, 1930, 9: 537-584.
  • D. Klein:
    Albinisme partiel (leucisme) accompagné de surdi-mutité, d'ostéomyodysplasie, de raideurs articularies congénitales.
    Archiv der Julius Klaus-Stiftung für Vererbungsforschung, Sozialanthropologie und Rassenhygiene, Zürich, 1947, 22: 336.
  • D. Klein:
    Albinisme partiel (leucisme) avec surdi-mutité, blépharophimosis et dysplasie myo-ostéo-articulaire.
    Helvetica Paediatrica Acta, Basel,1950, 5: 38-58.
  • D. Klein:
    Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).
    American Journal of Medical Genetics, New York, 1983, 14: 231.
  • P. J. Waardenburg:
    Dystopia punctorum lacrimalium, blepharophimosis en patiële irisatrophie bij een doofstomme.
    Nederlandsch Tijdschrift voor Geneeskunde, Amsterdam, 1948, 92: 3463.
  • P. J. Waardenburg:
    A new syndrome combining development anomalies of the eylelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperlasia supercilii nedialis et radicis nasi, heterochromia iridium totalis sive partialis, albinismus circumscriptus (surdimutitas).
    American Journal of Human Genetics, Chicago, 1951, 3: 195-253.
  • P. J. Waardenburg:
    A new syndrome of importance for oculists and ear specialists.
    Ophthalmologiaca, Basel, 1952, 123: 184-186.
  • K. N. Shah, et al:
    White forelock, pigmentary disorder of irides, and long segment Hirschprung disease: Possible variant of Waardenburg syndrome.
    Journal of Pediatrics, St. Louis, 1981, 99: 432-435.

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