Clinical characteristics of patients
| SRS-ue-4 | SRS-ue-5 | SRS-ue-6 | |
| Molecular finding | 22q11.2 | Pseudo-autosomal X duplication | IGF1R |
| SRS diagnosis | SRS-like | SRS-like | SRS |
| Growth characteristics | |||
| SGA | + | + | + |
| PNGR | + | + | + |
| Relative macrocephaly | + | + | + |
| Typical face (at least 3/4 characteristics) | 2 | 2 | 3 |
| Triangular face | + | + | + |
| Micrognathia | + | −? | + |
| Frontal bossing | − | + | + |
| Craniofacial disproportion | ? | ||
| Relative criteria (at least 1) | 4 | 5 | 3 |
| Asymmetry | + | + | − |
| Clinodactyly or brachydactyly of 5th finger | + | + | + |
| Low-set/malformed ears | right | + | − |
| 2nd or 3rd toe syndactyly | − | + | − |
| Cryptorchidism | female | + | female |
| Feeding problems | + | − | + |
| Speech delay | − | − | + |
| Excessive sweating | − | ||
| Atypical characteristics | |||
| Motor developmental delay | + | + | |
| Developmental delay | + | ||
| Weight gain | + | ||
| Sandal crease between 2nd and 3rd toes | + | ||
| Wide crease between 1st and 2nd toes | + | ||
| Hypospadia | + | ||
| Congenital hip dysplasia | + | ||
| Hypoplastic alae nasi | + | ||
| Scoliosis | + | ||
| Asthma | + | ||
| Ventricular septal defect | + | ||
PNGR, postnatal growth retardation; SGA, small for gestational age; SRS, Silver–Russell syndrome.