Published on June 13, 2017

48, XXXX syndrome


An extremely rare condition in which a female has two extra X chromosomes.

Overview

48, XXXX syndrome is a genetic disorder in which a female offspring has four copies of the X chromosome instead of two.

Symptoms

Symptoms vary from mild to disabling and include speech and learning difficulties, developmental delay, and distinctive facial features.

Treatments

Treatment involves managing symptoms and addressing development issues with support, such as occupational therapy.