Occurrence of SRS features. Categorisation is based on multiple published reports of SRS features, on the general emphasis stated in these reports for inclusion criteria in SRS studies, and on our own observations
| Diagnostic characteristics (generally observed) | Confirmatory characteristics (frequently observed) | Miscellaneous characteristics (rarely observed in single cases) | |
| Growth | Small for gestational age | Delayed bone age | Delayed fontanelle closure |
| Short stature postnatally >−2 SD | |||
| Craniofacial appearance | Triangular face | Low set ears/ear anomalies | Anteverted nares |
| Frontal bossing | Irregular teeth | Blue sclerae | |
| Micrognathia | High arched/cleft palate | Epicanthic folds | |
| Downturned mouth | Congenital ptosis | ||
| Craniofacial disproportion | Eyebrows meeting in midline | ||
| Relative macrocephaly | |||
| Limbs & body | Clinodactyly of fifth digits | Syndactyly of toes II/III | Café au lait spots |
| Brachydactyly of fifth digits | Muscular hypotrophy/tonia | Short neck | |
| Asymmetry of limbs | Hypospadias | Simian crease | |
| Hemihypertrophy trunk/limbs | Cryptorchidism | Calcaneovalgus deformities | |
| Scoliosis-lordosis | Ambigious genitalia | ||
| Absent sacrum | Second metacarpal pseudoepiphysis | ||
| Absent coccyx | Hepatomegaly | ||
| Vertebral abnormalities | Splenomegaly | ||
| Development & behaviour | Delayed psychomotor development | Raised urinary gonadotrophins | |
| High pitched/squeaky voice | Precocious puberty | ||
| Excessive sweating | |||
| Feeding difficulties | |||