Management

Management is based on multidisciplinary care and age- and sex-specific surveillance. Neurodevelopmental assessment, developmental support, and educational interventions are often needed during childhood. In adults, recommended follow-up typically includes regular thyroid examination and ultrasound, breast screening in females, endometrial surveillance when clinically indicated, and consideration of colon and renal surveillance according to published guidelines.

Genetic counselling is important for affected individuals and their relatives because of the autosomal dominant inheritance pattern.