General information

The TRIO-related intellectual disability syndrome is a neurologic disorder caused by disruption of the TRIO gene, located on chromosome 5. Each individual receives one copy of the gene from their biological mother and one from their biological father. If information contained in either of these copies is significantly modified, this may lead to the symptoms of the TRIO-related intellectual disability syndrome.

Patients affected by this syndrome usually present feeding problems during infancy, delay affecting both language and motor development and variable degrees of intellectual disability. Some behavioural problems such as attention deficit, hyperactivity or aggressive behaviour may be frequently observed among the affected persons. Most patients present a particular hand shape (with short fingers and swollen proximal finger joints) or may suffer from other orthopaedic problems affecting the spine such as kyphosis or scoliosis.

At present, less than 20 affected persons have been described in the medical literature.