Short answer · Medically reviewed summary · Last updated: 2026-04-07
Apert Syndrome is a rare genetic condition estimated to occur in approximately 1 in 65,000 to 1 in 88,000 live births worldwide. Epidemiological Overview Because Apert Syndrome is a rare genetic disorder caused by specific mutations in the FGFR2 gene, it is classified as a rare disease. While the incidence is often cited as roughly 1 in 65,000, these figures are estimates; true prevalence may be slightly higher due to historical underdiagnosis or challenges in differentiating Apert Syndrome from other craniosynostosis syndromes in resource-limited settings.
What is the prevalence of Apert Syndrome?
Prevalence of Apert Syndrome: how many people are affected worldwide, differences by sex and region, with sources.
Apert Syndrome is a rare genetic condition estimated to occur in approximately 1 in 65,000 to 1 in 88,000 live births worldwide.
Epidemiological Overview
Because Apert Syndrome is a rare genetic disorder caused by specific mutations in the FGFR2 gene, it is classified as a rare disease. While the incidence is often cited as roughly 1 in 65,000, these figures are estimates; true prevalence may be slightly higher due to historical underdiagnosis or challenges in differentiating Apert Syndrome from other craniosynostosis syndromes in resource-limited settings. The condition affects males and females equally, with no reported ethnic or geographic predilection for the mutation.
Age of Onset and Diagnostic Challenges
Apert Syndrome is a congenital condition, meaning it is present at birth. Clinical diagnosis is typically made in the neonatal period based on the hallmark presentation of craniosynostosis—the premature fusion of skull bones—combined with syndactyly (webbing) of the hands and feet. Because the physical features are distinct, misdiagnosis is less common today than in the past, though mild cases may occasionally be overlooked in favor of less severe forms of craniosynostosis.
Real-World Insights
While formal epidemiological registries provide broad statistical snapshots, our DiseaseMaps.org community offers a unique, real-world perspective. We currently have 102 individuals with Apert Syndrome sharing their experiences on our platform. This community data highlights that while the clinical definition of Apert Syndrome is precise, the day-to-day journey of those living with the condition varies significantly, emphasizing the importance of patient-led registries in capturing the true scope of the Apert Syndrome experience.
Medical Disclaimer: This information is for educational purposes and should not replace professional medical advice, diagnosis, or treatment. Always consult with your geneticist or pediatrician regarding specific health concerns related to Apert Syndrome.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Apert Syndrome Overview.
- Orphanet: Rare Disease Database (ORPHA:87).
- OMIM (Online Mendelian Inheritance in Man): Apert Syndrome (Entry #101200).
