SNP Shot: Genomic Insights

Legius syndrome is a condition that primarily affects skin pigmentation. The most common characteristic is the presence of multiple café-au-lait spots, which are flat, hyperpigmented patches of skin that are darker than the surrounding skin. Some individuals with Legius syndrome may also develop freckles in the armpits (axillary freckling) and groin area.

Besides skin changes, other symptoms of Legius syndrome can include an unusually large head size (macrocephaly) and distinct facial features. While most individuals with Legius syndrome have normal cognitive abilities, some may experience learning difficulties, attention-deficit disorder (ADD), or attention-deficit/hyperactivity disorder (ADHD).

Legius syndrome shares many symptoms with neurofibromatosis type 1, a related disorder. Differentiating between these two conditions can be challenging, particularly in young children. However, the distinguishing characteristics of each disorder become more apparent as individuals age.

Inheritance:

Legius syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is needed for a person to develop the condition.