Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features, skeletal anomalies, and cognitive impairment. It has been reported that de novo mutations in KDM1A cause this disease. KDM1A is a histone demethylase that has been shown to play diverse and key roles in regulating gene expression during development.
