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Abstract
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional
intestinal obstruction with an incidence of 1/5000 live births. This developmental
disorder is a neurocristopathy and is characterised by the absence of the enteric
ganglia along a variable length of the intestine. In the last decades, the development
of surgical approaches has dramatically decreased mortality and morbidity, which has
allowed the emergence of familial cases. HSCR appeared to be a multifactorial malformation
with low, sex dependent penetrance and variable expression according to the length
of the aganglionic segment, suggesting the involvement of one or more gene(s) with
low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent
congenital malformation now stands as a model for genetic disorders with complex patterns
of inheritance.