Waardenburg-Shah syndrome
What is Waardenburg-Shah syndrome?
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).
Other condition names
- Shah-Waardenburg syndrome
- WS4
- Waardenburg syndrome type 4
- Waardenburg-Hirschsprung syndrome
Inheritance type
Autosomal dominant, Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Neonatal
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