This page contains affiliate links. We may earn a commission if you purchase through them, at no extra cost to you.
Is Treacher Collins Syndrome Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-dominant
- Key genes
- TCOF1 POLR1C
CircleDNA's Premium Test covers 500+ health and ancestry reports. Explore your DNA →
A craniofacial dysostosis syndrome affecting cheekbones jaws and ears caused by TCOF1 mutations in ~78% of cases.
How Genetic Is Treacher Collins Syndrome?
Treacher Collins 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 Treacher Collins Syndrome: TCOF1 POLR1C. 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 Treacher Collins Syndrome?
Yes — family history is one of the strongest predictors of Treacher Collins 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.
The world's most comprehensive at-home DNA test — 500+ reports covering diet, fitness, cancer risk, disease risk, and family planning.
Discover your genetic profile →