A patient with the Smith-Lemli-Opitz Syndrome may be classified based on the level of 7-dehydrocholesterol reductase (DHCR7) activity, which correlates with the clinical severity.
Clinical Features
DHCR7 Activity
Type
less severe malformations
mild to moderate reduction
Type I
severe malformations, often with stillbirth or neonatal death
markedly reduced to none
Type II
A patient with Type II disease may be a:
(1) homozygote for a single severe mutation
(2) compound heterozygote with two severe mutations
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