RESEARCH
Hirschsprung’s Disease (HSCR) is caused by the premature halting of neural crest cell migration (1). No medical authority recognizes a definitive cause of HSCR. Whatever the cause, it would be the same for the skip-segment variation. The only difference is the relatively rare continuation of migration and colonization by a handful of neural crest cells. These cells create a section of normally ganglionic area in a larger section of aganglionosis (4). The cause for the difference between HSCR and SSHD is also unknown.
Given the extreme rarity of SSHD, there isn’t much current research being conducted. Any articles written now are based on the data collected from the 24 documented cases of the disorder. The last reported case was back in 2010 (1), so there is a substantial lack of subjects that research would require.
However, there is some research on regular HSCR. A better understanding of this disease could help diagnose and explain its rare variant, SSHD, or help patients recover more quickly following treatment.