Summary of published scoring systems for diagnosis of Silver–Russell syndrome (SRS)
| Scoring system | 1: Lai et al6 | 2: Price et al1 | 3: Netchine et al4 | 4: Bartholdi et al5 | 5: Birmingham |
|---|---|---|---|---|---|
| Testing context | Before association of H19 DMR hypomethylation with SRS | Before association of H19 DMR hypomethylation with SRS | Predominantly used in assessment of patients with H19 DMR hypomethylation | Used to assess patients with upd(7)mat and H19 DMR hypomethylation | Non-research cohort Used to assess patients with upd(7)mat and H19 DMR hypomethylation |
| Mandatory clinical features | Nil | Nil | Prenatal growth retardation (birth weight/length SDS<−2) | Nil | Nil |
| Total number of features assessed | 5 (low birth weight; postnatal short stature; distinctive facies; asymmetry and clinodactyly) | 5 (low birth weight; postnatal short stature; relative macrocephaly; distinctive facies and asymmetry) | 6 (short stature –height SDS<−2 after 2 years; relative macrocephaly; prominent forehead; asymmetry and feeding difficulties) | 13 (extra criteria include genital abnormalities; developmental delay; other dysmorphic features and asymmetry weighted at 3—present or 0—absent) | 4 Small for gestational age (birth weight SDS<−2) Postnatal short stature (after 2 years) (Ht SDS<−2) Relative macrocephaly (OFC>1.5 SDS than Ht SDS) Asymmetry |
| Minimum score for clinical diagnosis of SRS | 3/5 | 4/5 | 3/5 plus mandatory prenatal growth failure | 8/15 | 3 |
Criteria bold are subjective or difficult to assess within a single examination.
DMR; differentially methylated region; OFC, occipitofrontal circumference.