Table 1 Clinical features of FXS males [4, 7, 9, 11, 13, 17, 18, 24, 26, 27, 32, 34, 36, 37, 51]
From: Fragile X syndrome: a review of clinical and molecular diagnoses
Features | Frequency | |
|---|---|---|
Face | Long/Narrow face | 83% |
Macrocephaly | 81% | |
Prominent ears | 72–78% | |
High-arched palate | 94% | |
Prominent jaw | 80% | |
Facial hypotonia | NA | |
Eye puffiness | NA | |
Closely spaced eyes | NA | |
Long palpebral fissures | NA | |
Epicanthal folds | NA | |
Flat nasal bridge | NA | |
Broad nose | NA | |
Broad philtrum | NA | |
Central nervous system | EEG anomalies | 74% |
Epilepsy | 10–20% | |
Brain MRI anomalies | Up to 50% of patients with neurologic comorbidities | |
Neuropsychiatric involvement | Psychomotor delay | ~100% |
ID | ~100% | |
Aggressiveness | 90% | |
Attention problems | 74–84% | |
Hyperactivity | 50–66% | |
Anxiety Disorder | 58–86% | |
ASD | 30–50% | |
Sleep problems | 30% | |
ADHD | 12–23% | |
Depression | 8–12% | |
Musculoskeletal system | Joint hypermobility | 50% |
Pectus excavatum | 50% | |
Flat feet | 29–69% | |
Spine deformity | 6–9% | |
Cardiovascular | Mitral valve anomalies | 3–12% |
Aortic root dilatation | 25% | |
Eye | Refractive errors | 17–59% |
Strabismus | 8–40% | |
Nystagmus | 5–13% | |
Other | Macroorchidism | 63–95% |
Obesity/overweight | 53–61% | |
Recurrent otitis media | 47–97% | |
Gastrointestinal complaints | 31% | |
Soft skin | NA | |