What is a clinical feature of Legius Syndrome?

Legius Syndrome is characterized by specific clinical features, one of which is intertriginous freckling. This condition is caused by mutations in the SPRED1 gene and is often confused with neurofibromatosis type 1 due to some overlapping features. However, the key distinguishing feature of Legius Syndrome is the presence of freckling in skin folds, such as under the arms and groin areas.

In contrast, while neurofibromas, seizures, and cognitive disabilities can occur in other neurogenetic syndromes, they are not characteristic of Legius Syndrome. Neurofibromas are specifically associated with neurofibromatosis type 1, and seizures along with cognitive disabilities might be seen in a variety of neurological conditions. Thus, intertriginous freckling stands out as the distinct clinical hallmark of Legius Syndrome.