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Is Smith-Lemli-Opitz Syndrome Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-recessive
- Key genes
- DHCR7
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Metabolic disorder caused by defects in cholesterol biosynthesis leading to multiple congenital anomalies and intellectual disability.
How Genetic Is Smith-Lemli-Opitz Syndrome?
Smith-Lemli-Opitz Syndrome has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with Smith-Lemli-Opitz Syndrome: DHCR7. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Smith-Lemli-Opitz Syndrome?
Yes — family history is one of the strongest predictors of Smith-Lemli-Opitz Syndrome. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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