Smith-Lemli-Opitz syndrome
from OrphaChat — a Rare Disease Podcast Hosted by RCH
Smith-Lemli-Opitz syndrome is a rare genetic disorder caused by DHCR7 mutations, leading to cholesterol deficiency and toxic oxysterol accumulation. It results in developmental delays and physical malformations. Management involves cholesterol supplementation and therapy.
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This episode was published on February 4, 2026.
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