PhenomeGene — Human Disease Gene Website SeriesTFE3

Management

There is no specific treatment or cure for this condition. Symptoms are addressed based on their current standard therapy. Patients should be evaluated at least by a clinical geneticist, developmental specialist, and a neurologist.

Special attention should be given to:
•    Psychomotor development and rehabilitation
•    Early detection of epilepsy and accurate treatment
•    Early detection and management of obesity
•    Early recognition and evaluation of behavioral issues
•    Neurological assessment and regularly neurologic evaluation
•    Growth evaluation
•    Ophthalmological assessment
•    Cardiac evaluation for congenital heart disease