Bohring-Opitz syndrome is a very rare genetic disorder caused by a mutation in the ASXL1 gene on chromosome 20. It is a neurodevelopmental disorder that is associated with a variety of physical and mental symptoms.

The most common features include mental retardation, growth retardation, facial anomalies (such as a prominent forehead, a wide nasal bridge and a narrow mouth) and heart defects. Those affected also often have speech delays, motor disorders and, in some cases, epilepsy. In many cases, cognitive and behavioral problems such as anxiety, aggression or autism-like symptoms can also occur.

The disease is usually sporadic, which means that it is not necessarily inherited, but is caused by a random genetic mutation. There is no cure for Bohring-Opitz syndrome, but treatment focuses on symptom control and supporting the development of the affected person through physiotherapy, speech therapy and occupational therapy. Prognosis varies, but early intervention can help to improve quality of life.