8p inverted duplication/deletion syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. Differential diagnosis includes other multiple congenital anomalies/intellectual deficit syndromes such as Trisomy 8p, in particular those with a 8p21-p22 duplication. There is no specific medical treatment. Physiotherapy from an early age as well as occupational therapy and speech therapy are recommended. There is no report on life expectancy. The majority of individuals will need lifelong full-time care.