Familial neuroblastoma is an extremely rare entity with only 1 – 2% of neuroblastoma cases thought to have a familial inheritance, mainly due to PHOX2B and ALK germline mutations. 16p11.2 microdeletion syndrome has been reported to be associated with neuroblastoma. We present the first case report of a patient presenting with metastatic neuroblastoma, developmental delay, and atypical facies, in whom we identified an inherited germline 16p11.2 microdeletion.