Petrus Waardenburg

Petrus Johannes Waardenburg (1886 – 1979) was a Dutch ophthalmologist and geneticist.

Waardenburg was one of the founders of clinical genetics in The Netherlands. A specialist in anthropogenetics he studied the genetics of eye disease in detail

Eponymously remembered for his descriptions of Waardenburg syndrome (1951); Waardenburg-Jonkers disease (1961); and Shah-Waardenburg syndrome (1981)

  • Born 3 June 1886 in Nijeveen
  • 1911 – Graduated medicine,  Utrecht University
  • 1959 – Snellen medal
  • Died 23 September 1979

Medical Eponyms
Waardenburg syndrome (1951)

Autosomal dominant syndrome consisting of (1) dystopia canthorum; (2) pigmentary abnormalities of the eyes, hair, or skin; and (3) deafness. After seeing a patient with deafness and dystopic canthi in 1947 Dr. Waardenburg examined all the pupils in the schools for deaf children in The Netherlands. Of the 1,050 pupils he found 12 affected by this syndrome. In the families of these 12 children he detected altogether 114 patients with similar abnormalities. [aka van der Hoeve-Halbertsma-Waardenburg-Klein syndrome]

Other medical eponyms

  • Waardenburg syndrome I (1934): Acrocephalosyndactyly syndrome characterized by lack of osseous fusion of the short tubular bones, oligodactyly of the feet, short stature, pericardial cysts, rectal prolapse, and deformed ears. Inheritance is autosomal dominant.
  • Waardenburg-Jonkers disease (1961): Progressive corneal dystrophy in young infants, with eye irritation episodes, progressive impairment of vision, and reduction of corneal sensitivity. Transmitted as a dominant trait
  • Shah-Waardenburg syndrome (1981): Waardenburg syndrome is associated with white forelock, white eyebrows and eyelashes, iridochromia iridis, and intestinal obstruction caused by a long-segment Hirschprung disease. The syndrome is transmitted as an autosomal recessive trait.

Major Publications


BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

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