Waardenburg Syndrome
The clinical symptoms of Waardenburg Syndrome (WS) include:
  • Dystopia canthorum (lateral displacement of the inner canthus of each eye)
  • Pigmentary abnormalities of hair, iris, and skin (often white forelock and heterochromia iridis)
  • Sensorineural deafness

Some symptoms may be absent.
WS is subdivided in two types (I and II) on the basis of dystopia canthorum.
The combination of WS type I characteristics with upper limb abnormalities has been called Klein-Waardenburg syndrome or WS type III.
The combination of recessively inherited WS type II characteristics with Hirschsprung disease has been called Waardenburg-Shah syndrome or WS type IV.


Clinical classification

Type I

Dystopia canthorum

Type II

No dystopia canthorum

Klein-Waardenburg syndrome (type III)

Type I and upper limb abnormalities

Waardenburg-Shah syndrome (type IV)

Type II and Hirschsprung disease
(autosomal dominant and recessive inheritance)

 

 


Molecular classification

Type

Locus

Location

Gene

References

OMIM entry

type I

WS1

2q35

PAX3

Tassabehji et al., 1992

193500

type IIA

WS2A

3p14.1-p12.3

MITF

Tassabehji et al., 1994

193510

type IIB

WS2B

1p21-p13.3

unknown

Am J Hum Genet 55 (suppl): A14, 1994

600193

type IIC

WS2C

8p23

unknown

Selicorni et al., 2002

606662

type IID

WS2D

8q11

SNAI2

Sanchez-Martin et al., 2002

608890

type III

WS3

2q35

PAX3

Hoth et al., 1993

148820

type IV

WS4

13q22

EDNRB

Attie et al., 1995

131244

type IV

WS4

20q13.2-q13.3

EDN3

Edery et al., 1996

131242

type IV

WS4

22q13

SOX10

Pingault et al., 1998

602229