Table 2. [Features of Smith-Lemli-Opitz Syndrome]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
2-3 toe syndactyly	>99%
Growth restriction	>90%
Microcephaly	80%-84%
Photosensitivity	Common ¹	UVA mediated
Congenital heart defect	50%
Hypospadias &/or bilateral cryptorchidism	50%	In males
Cleft palate	40%-50%
Hypotonia	40%-50%
Postaxial polydactyly	25%-50%
Renal anomalies	25%
External female genitalia w/a 46,XY karyotype	20%-25%
Cataract	20%	May be congenital or develop acutely

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