Families

Paganini-Miozzo syndrome is an extremely rare genetic condition that mainly affects brain development. It is caused by a change in a gene called HS6ST2, which is located on the X chromosome. Because of this, the condition is more likely to affect boys, while girls can sometimes be carriers without showing symptoms.

Children with this condition usually show delays in development, such as learning to sit, walk, or speak later than expected. They may also have learning difficulties. Some children can have seizures (epilepsy) or differences in brain imaging. Vision problems, such as strong short-sightedness (myopia), may also be present. In some cases, mild differences in facial features, feeding difficulties, or other health issues can occur.

Only a very small number of cases have been reported worldwide, so doctors are still learning about the full range of features and how the condition may change over time. Care is focused on managing symptoms and supporting the child’s development.