Disease Gene or genetic position Association or evidence Reference
CS HLXB9 yes [73]
CS HLXB9 yes [74]
CS HLXB9 yes [75]
CRS CYP26A1 no [63]
CRS HLXB9 no [64]
CRS 18p11.2 yes [77]
VACTER HOXD13 yes [62]
CS 7q yes [79]
VACTER 22q11.21 yes [78]
Table 2: Genetic research list for diseases related and similar to caudal regression syndrome.