Syndromic symptoms (FMTC/MEN2A and Waardenburg syndrome) are mainly caused by RET and EDNRB. Syndrome symptoms are common and varied, so it is important to focus on other complications in HSCR patients and pay attention to risk genes, such as RET, EDNRB and PHOX2B. Here, PHOX2B is linked to Waardenburg syndrome.