Legius Syndrome (LS) is a genetic disorder caused by variants in the SPRED1 gene. Lipomas (benign fatty tumors) have been reported in LS. It is not clear if individuals with Legius Syndrome are at an increased risk for cancer. Dr. Eric Legius, for whom the syndrome is named, is a distinguished Belgian geneticist and a collaborator on the RASopathy study. It is not known how common Legius Syndrome is.
What are some of the features and symptoms of Legius Syndrome?
- Light brown to dark brown birth mark (café au lait spots)
- Freckles in the armpit
- Facial features include large head, short neck, widely spaced eyes
- Intellectual disability or language impairment may be present but is less common.
What is the age at diagnosis of Legius Syndrome?
The age at diagnosis varies due to the difficulty in making a diagnosis based solely on clinical features. The other syndromes have similar features; therefore, genetic testing is needed to confirm diagnosis.
How is Legius Syndrome treated?
Treatment is focused on the specific symptoms and may involve physical therapy, speech therapy, or occupational therapy.
What types of cancer are individuals with Legius Syndrome at higher risk of developing?
Different kinds of cancers have been reported in individuals with LS. However, the risk of developing cancer is uncertain because it is so rare.