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Fragile X Syndrome (FXS) has two other names: Escalante’s Syndrome and Martin-Belle Syndrome. It involves intellectual disabilities ranging from mild to severe, physical attributes, and behavioral characteristics.

For the physical appearance, patients with FXS have an elongated face, large protruding ears, high arched palate, hyperextensible finger joints, soft skin, larger than normal testes, hypotonia, and flat feet. Sinusitis and middle ear infection is common in early childhood. Nervousness can be observed in speech.

Some individuals may meet the diagnostic criteria for autism. Common behavioral characteristics, as mentioned in the article, are limited eye contact, shyness, atypical social development, and stereotypic movements.

Intellectual difficulties include short-term memory, spared verbal abilities, visual memory, and visual-spatial relationships. It is also the leading genetic cause of autism. Since FXS individuals also have difficulty in face encoding, they get to experience a great deal of panic attacks which may also related to their excessive shyness. They may have mild to severe social withdrawal as well. Even with this, most of the males affected tend to have attention deficit hyperactivity disorder (ADHD). Expressions of anxiety can appear with hand flapping, biting, and aggression. There are also occurrences of phobic anxiety, somatization, interpersonal sensitivity, obsessive-compulsive disorder, depression, and psychoticism.

Strabismus and refractive errors are also common in patients with FXS. Seizures may also develop in some individuals as well as ataxia or tremors at a later age. Also, older patients will appear to have more difficulty in memory. Women with FXS are also affected with primary ovarian insufficiency which is like an early menopause.

There is no cure for FXS, however there are several symptom-managing medications used to lessen the secondary characteristics related to the condition. Stimulants are given for impulsivity, hyperactivity, and attention-associated problems. For anxiety, OCD behaviors, and mood disorders, antidepressants like Selective Serotonin Reuptake Inhibitors (SSRIs) are used. To treat aggressive and self-injurious behaviors, antipsychotics like Seroquel and Risperdal are given. Anticonvulsants are administered for seizures, and in some studies Lithium has shown to help in behavioral functioning. Speech, behavioral, and occupational therapy are its non-pharmacological treatment.