Hunter Syndrome

Hunter syndrome, also known as mucopolysaccharidosis type II, is a genetic disease in which molecules that the body cannot break down accumulate, progressively affecting different tissues.

How it presents: It appears mainly in children and may include characteristic facial features, joint stiffness, growth abnormalities and involvement of several organs.

Origin: It stems from an inherited disorder, generally linked to the X chromosome, that reduces the activity of an enzyme responsible for processing certain substances.

Who to see: The pediatrician performs the first evaluation and refers to genetics and metabolism specialists for follow-up. When a child's development shows persistent signs that draw attention, it is best to have it checked in a timely manner by a professional.