Table 1. Clinical evaluation of patients with suspected Sotos syndrome.
SD: standard deviation; NSD1: nuclear receptor-binding set domain protein 1
| Evaluation of Sotos Syndrome | |
| Clinical manifestations | Distinctive facial features (prominent forehead, down slanting palpebral fissures, long and narrow face), developmental delay, overgrowth (height and/or head circumference >2 SD above mean) |
| Diagnosis | Genetic testing for deletion of NSD1 (specific), radiographs showing bone age > chronological age (nonspecific) |
| Management | Treat manifestations → referral to appropriate specialists (e.g. speech/language pathology, psychiatry, endocrinologist, orthopedics, etc.) |