A previous study reported RGPD5 deletion in an infant with multiple craniofacial and limb malformations, including unilateral complete cleft lip, microcephaly, craniosynostosis, syndactyly, dysmorphic ears, bilateral congenital talipes equinovarus, bilateral radial club hand, and ectrodactyly41. Here, RGPD5 is linked to oral cavity neoplasm.