Finally, it is worth recalling our patient’s clinical features, partially overlapping with those present in specific FGFR2-related syndromes, such as high-arched palate (as in Pfeiffer syndrome), syndactyly of the 2nd and 3rd toes (Jackson-Weiss syndrome #MIM 123150 and Sathre-Chotzen syndrome, #MIM 101400), plagiocephaly (Sathre-Chotzen syndrome), developmental delay, and intellectual disability (Beare-Stevenson cutis gyrate syndrome, #MIM 123790, Crouzon syndrome, and Pfeiffer syndrome). The gene discussed is FGFR2; the disease is Pfeiffer syndrome.