IHH and acrocapitofemoral dysplasia: Here, we report the first case of ACFD from Pakistan and identify the fourth novel missense variant (c.518C>A) in exon‐2 of the IHH (NM_002181.4) gene that substituted the highly conserved non‐polar Ala residue with a negatively charged Asp residue at the 173 amino acid position in the same functional IHH N‐terminal domain that is essential for the local and long‐range signaling (Porter et al. 1995; Fresquet et al. 2007).