"telecanthus (lateral displacement of the inner canthi of the eyes) secondary to a prominent nasal root."
"Estimated prevalence of 1:42000 live births, with equal gender prevalence. Present in 2-5% of patients with congenital deafness 3."
"Hirschsprung's disease (type IV, Waardenburg-Shah syndrome)"
"It is usually inherited in an autosomal dominant pattern, involving PAX3 or MITF 3. However, some cases can have an autosomal recessive inheritance pattern (usually type IV, Waardenburg-Shah syndrome). A small percentage of cases have been reported in patients with no family history of the disease due to spontaneous mutations."
Expected headings
"Associations"
"Waardenburg syndrome is due to an abnormal distribution of neural crest-derived melanocytes during embryogenesis. There are at least four subtypes, with varying physical manifestations and genetic profiles."