Disease - Waardenburg syndrome 4B
Definition
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Acronym
WS4B
Synonyms
Hirschsprung disease with pigmentary anomaly
Shah-Waardenburg syndrome
Waardenburg-Shah syndrome
Waardenburg syndrome type IVB
Waardenburg syndrome with Hirschsprung disease type 4B
Shah-Waardenburg syndrome
Waardenburg-Shah syndrome
Waardenburg syndrome type IVB
Waardenburg syndrome with Hirschsprung disease type 4B
Keywords
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
