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Shah-Waardenburg syndrome
Also known as:
Hirschsprung disease-pigmentary anomaly syndrome
Hirschsprung's disease with pigmentary anomaly
Waardenburg-Hirschprung disease
Waardenburg's syndrome variant
Waardenburg-Hirschprung syndrome
Associated persons:
Harald Hirschsprung
Krishnakumar N. Shah
Petrus Johannes Waardenburg
Description:
A neurocristopathy characterised by the association of Hirschprung's disease and Waardenburg's syndrome. In this syndrome the 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.
Bibliography:
- 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.
- P. Edery, T. Attié, J. Amiel, A. Pelet, C. Eng, R.M.W. Hofstra, H. Martelli, C. Bidaud, A. Munnich, and S. Lyonnet:
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nature Genetics, 1996, 12: 442-444.
- R. M. W. Hofstra, J. Osinga, G. Tan-Sindhunata, Y. Wu, E.-J. Kamsteeg, R.P. Stulp, C. Van Ravenswaaij-Arts, D. Majoor-Krakauer, M. Angrist, A. Chakravarti, C. Meijers, and C.H.C.M. Buys:
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Nature Genetics, 1996, 12: 445-447.
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