Table 1 Major clinical characteristics of boys with FXS
From: Phenotypic variability to medication management: an update on fragile X syndrome
Category | Clinical characteristic | Prevalence (%) |
|---|---|---|
Physical | Long/narrow face | 83% more common in adults |
Macrocephaly | 50–81% | |
Prominent ears | 72–78% | |
Prominent jaws | 80% in adults | |
Flat feet | 29–69% | |
Macroorchidism | 95% since adolescence | |
Joint hypermobility | 50–70% more common in boys | |
Central nervous system | EEG anomalies | 74% |
Epilepsy | 10–20% | |
Brain MRI anomalies | Up to 50% of patients with neurologic morbidity | |
Neuropsychiatric/Developmental | Psychomotor delay | 99% |
Intellectual disability | 85% | |
Aggressiveness | 90% | |
Attention problems | 74–84% | |
Anxiety | 58–86% | |
Hyperactivity | 50–66% | |
ASD | 30–50% | |
Sleep problems | 30% | |
ADHD | 80% | |
Depression | 8–12% | |
Other | Strabismus | 8–30% |
Nystagmus | 5–13% | |
Otitis | 50–75% of children | |
Gastrointestinal problems | 30% | |
Obesity/overweight | 30–60% |