Table 2

Adapted (from ref 15) severity score for anatomical abnormalities in Smith-Lemli-Opitz syndrome

Organ Score Criteria
Brain1Seizures; qualitative MRI abnormality
2Major CNS malformations; gyral defects
Oral1Bifid uvula or submucous cleft
2Cleft hard palate or median cleft lip
Acral0Non-Y shaped minimal toe syndactyly
1Y shaped 2/3 toe syndactyly; club foot; upper or lower  polydactyly; other syndactyly
2Any two of the above
Eye2Cataract; frank microphthalmia
Heart0Functional defects
1Single chamber or vessel defect
2Complex cardiac malformation
Kidney0Functional defect
1Simple cystic kidney disease
2Renal agenesis; clinically important cystic disease
Liver0Induced hepatic abnormality
1Simple structural abnormality
2Progressive liver disease
Lung0Functional pulmonary disease
1Abnormal lobation; hypoplasia
2Pulmonary cysts; other major malformations
Bowel0Functional GI disease
1Pyloric stenosis
2Hirschsprung disease
Genitalia1Simple hypospadias
2Ambiguous or female genitalia in 46,XY; frank genital  malformation in 46,XX