At NGS analysis, several CHH probands harbored a total of 9 rare sequence variants and 4 novel sequence variants in genes previously identified to be associated with nHH and/or KS: FGFR1 (n 1), PROK2 (n 2), TAC3R (n 1), DCC (n 2), WDR11 (n 1), IL17RD (n 2), DUSP6 (n 1) and KAL1 (n 1), FGF8 (n 1), and IL17RD (n 1), respectively. This evidence concerns the gene TACR3 and cartilage-hair hypoplasia.