Table 2.

Features of Smith-Lemli-Opitz Syndrome

Feature% of Persons w/FeatureComment
2-3 toe syndactyly>99%
Growth restriction>90%
PhotosensitivityCommon 1UVA mediated
Congenital heart defect50%
Hypospadias &/or bilateral cryptorchidism50%In males
Cleft palate40%-50%
Postaxial polydactyly25%-50%
Renal anomalies25%
External female genitalia w/a 46,XY karyotype20%-25%
Cataract20%May be congenital or develop acutely

Exact frequency unknown

From: Smith-Lemli-Opitz Syndrome

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