Adapted (from ref 15) severity score for anatomical abnormalities in Smith-Lemli-Opitz syndrome
| Organ | Score | Criteria | |
| Brain | 1 | Seizures; qualitative MRI abnormality | |
| 2 | Major CNS malformations; gyral defects | ||
| Oral | 1 | Bifid uvula or submucous cleft | |
| 2 | Cleft hard palate or median cleft lip | ||
| Acral | 0 | Non-Y shaped minimal toe syndactyly | |
| 1 | Y shaped 2/3 toe syndactyly; club foot; upper or lower polydactyly; other syndactyly | ||
| 2 | Any two of the above | ||
| Eye | 2 | Cataract; frank microphthalmia | |
| Heart | 0 | Functional defects | |
| 1 | Single chamber or vessel defect | ||
| 2 | Complex cardiac malformation | ||
| Kidney | 0 | Functional defect | |
| 1 | Simple cystic kidney disease | ||
| 2 | Renal agenesis; clinically important cystic disease | ||
| Liver | 0 | Induced hepatic abnormality | |
| 1 | Simple structural abnormality | ||
| 2 | Progressive liver disease | ||
| Lung | 0 | Functional pulmonary disease | |
| 1 | Abnormal lobation; hypoplasia | ||
| 2 | Pulmonary cysts; other major malformations | ||
| Bowel | 0 | Functional GI disease | |
| 1 | Pyloric stenosis | ||
| 2 | Hirschsprung disease | ||
| Genitalia | 1 | Simple hypospadias | |
| 2 | Ambiguous or female genitalia in 46,XY; frank genital malformation in 46,XX | ||