Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome

A rare genetic multiple congenital anomalies syndrome characterized by global developmental delay and intellectual disability with limited or absent speech development, microcephaly, cardiac anomalies, and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Variable genitourinary, gastrointestinal, musculoskeletal and/or ocular anomalies have also been reported.