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Is Achondroplasia Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-dominant
- Key genes
- FGFR3
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Achondroplasia is the most common form of short-limbed dwarfism caused by a specific mutation in the FGFR3 gene. About 80% of cases arise de novo.
How Genetic Is Achondroplasia?
Achondroplasia 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 Achondroplasia: FGFR3. 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 Achondroplasia?
Yes — family history is one of the strongest predictors of Achondroplasia. 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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