In coordination with our genetics team, testing with single nucleotide polymorphism (SNP) microarray and fluorescence in situ hybridization (FISH) for DiGeorge and Treacher Collins syndrome (TCS) panels including most commonly associated genes were sent, which included SF3B4, TCOF1, POLR1D, POLR1C, HODH, and EFTUD2. The TCS panel reported an autosomal dominant mutation on the TCOF1 gene, pointing to the heterozygous inheritance with a new pathogenic variant on exon 17, namely, c.2689A>T (p.Arg897*). The gene discussed is EFTUD2; the disease is Treacher-Collins syndrome.