Medical Symptoms of Fragile X Syndrome
In addition to intellectual and developmental issues, fragile X syndrome may also increase the risk of certain medical conditions. These include flat feet, sleep problems, gastroesophageal reflux, scoliosis, hyperextensible joints, crossed eyes, persistent ear infections, abnormally large testes, seizures, or heart issues. Some typical facial features may also develop in certain individuals with fragile X syndrome, such as discernible jaw, big ears, broad forehead, and long face. Keep in mind that not everyone with the disorder has these features. In addition, these physical signs are not always clear at birth. [5]
Fragile X Syndrome Diagnosis
Those children who have physical features of fragile X syndrome or show symptoms of developmental and intellectual disabilities should be tested for the disorder. The same holds true for those with a family history of this condition. On average, the age of diagnosis is around 35 months in boys and 42 months in girls. Fragile X syndrome can be diagnosed with the FMR1 DNA test. This is a type of blood test that searches for mutations in the FMR1 gene linked to fragile X syndrome. Other tests can also be suggested to determine how serious the disorder is. [6]
