PAX1 and otofaciocervical syndrome 1: Otofaciocervical syndrome (OTFCS) is a rare group disorder that is subclassified into two types: autosomal recessive OTFCS2 (MIM: 615,560) and autosomal dominant OTFCS1 (MIM: 166,780) due to gene mutations in PAX1 and EYA1, respectively (Patil et al. 2018).