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At a glance

It is a rare genetic disorder characterized by deafness (represents up to 3% of all cases of children deafness at school age), hypopigmentation of the skin, iris colored differences between eyes, hair and stria vascularis of the cochlea, and the presence of minor defects caused by neural crest anomalies. The most striking characteristic observed in most patients is the presence of two different colored eyes, white forelock and eyelashes, and premature graying of the hair. Other clinical features include a moderate acrocephaly, lack of osseous fusion of the short tubular bones, oligodactyly of the feet, short stature, cyanotic cardiopathy, laryngomalacia, pericardial cysts, rectal prolapse, and deformed ears. Other signs include a hypoplastic maxilla, multiple muscle contractures, limited neck movements, asymmetry of hands, deformity of the first phalanx of the head, absence of the first digit of the foot, and bifid distal phalanges of the second and third toes.


Petrus Johannes Waardenburg Syndrome; WSI; WSII; Klein-Waardenburg Syndrome; Waardenburg Upper Limb Anomalies Syndrome; WSIII; Waardenburg-Shah Syndrome; Waardenburg-Hirschsprung Disease Syndrome; WSIV; van Der Hoeve-Halbertsma-Waardenburg-Gualdi Syndrome; van Der Hoeve-Halbertsma-Waardenburg Syndrome.


This medical condition was originally described in 1951 by Petrus Johannes Waardenburg (1886-1979), a Dutch ophthalmologist and geneticist. The Waardenburg Syndrome Type III (WSIII) was named after Waardenburg and David Klein, a Swiss human geneticist and ophthalmologist who made contributions toward the expanding the understanding of the syndrome. Four types of this disorder have been subsequently described. Type II was identified in 1971.


Four types of this syndrome have been described. Also, two subtypes are known for Type II based on differences in symptoms/signs. However, all types present with very pale or brilliantly blue eyes, iris heterochromia, or iris sectoral (two different colors within the same eye) (sectoral heterochromia). Also, the presence of peliosis (white forelock) or premature graying of the hair is the characteristic of the disease. Otherwise, each type present with other features that consist of:

  • Waardenburg Syndrome Type I (WS1): This medical condition is associated with severe telecanthus that is caused by a dystopia canthorum (broad nasal root).

  • Waardenburg Syndrome Type II (WS2): Individuals affected with this type present with moderate to profound deafness. It is distinguished from Type I by the absence of dystopia canthorum. The four subtypes are defined by the genetic locus involved in the clinical presentation.

    • Waardenburg Syndrome Type IIA (WS2A)

    • Waardenburg Syndrome Type IIB (WS2B)

    • Waardenburg Syndrome Type IIC (WS2C)

    • Waardenburg Syndrome Type IID (WS2D)

  • Waardenburg Syndrome Type III (WS3; Klein-Waardenburg Syndrome; Waardenburg Upper Limb Anomalies Syndrome): Individuals affected with this type present upper limbs hypoplasia.

  • Waardenburg Syndrome Type IV (WS4; Waardenburg-Shah Syndrome; Waardenburg-Hirschsprung Disease Syndrome): Individuals affected with this type present for megacolon. Other features include a variety of other congenital disorders such as intestinal anomalies, spinal defects, and elevation of the scapula, cleft ...

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