Table 3.
Analysis between family characteristics, syndromic Hirschsprung’s disease (HSCR) and non-syndromic HSCR
| Family characteristics | Syndromic HSCR | Non-syndromic HSCR or not mentioned | Total | Percentage (%) |
|---|---|---|---|---|
| Parent to child | ||||
| Lineal 3 generationa | 3 | 3 | 6 | 4.65 |
| Lineal 2 generationb | 9 | 32 | 41 | 31.78 |
| Siblingsc (including twins) | 22 | 46 | 68 | 52.71 |
| Collateral relativesd | 5 | 9 | 14 | 10.85 |
| Total | 39 | 90 | 129 | |
| Percentage (%) | 30.23 | 69.77 |
When a large family exists multiple patterns, we choose the priority order refer to “parents to child > siblings > collateral relatives”. aDetermined HSCR occurs in both proband’s parents (father, mother or both) and grandparents (grandfather, grandmother or both); bdetermined HSCR occurs in proband’s parents (father, mother or both); cdetermined HSCR occurs in proband’s brothers or sisters; ddetermined HSCR occurs in proband’s cousins or relatives