What is the prevalence of Fraser Syndrome?

Fraser syndrome is an ultra-rare genetic disorder with an estimated incidence of approximately 1 in 150,000 to 250,000 live births. Due to the high rate of fetal loss and the severity of the condition, accurate prevalence figures are difficult to determine, though it is recognized as a lifelong condition starting at birth.

What is the estimated incidence and prevalence of Fraser syndrome?

Fraser syndrome is classified as an ultra-rare multisystem disorder. While population-based studies are limited, Orphanet estimates the prevalence at birth to be roughly 1 in 200,000. Because many cases result in stillbirth or neonatal mortality, the number of individuals currently living with Fraser syndrome is significantly lower than the incidence rate suggests. Within the DiseaseMaps.org community, we have 17 individuals who have shared their experiences, highlighting the rarity and the value of global patient data in understanding this condition.

How do gender and geography affect Fraser syndrome?

Current clinical literature indicates that Fraser syndrome affects males and females with equal frequency. There is no evidence suggesting a specific geographic or ethnic predisposition, though the condition is inherited in an autosomal recessive pattern. This means both parents must carry a mutation in the responsible genes (typically FRAS1, FREM2, or GRIP1) for a child to be born with Fraser syndrome.

Why is accurate data for Fraser syndrome challenging to track?

Tracking the true prevalence of Fraser syndrome is complicated by several factors:

• Underdiagnosis: Milder phenotypes may not be immediately identified as Fraser syndrome.


• Misdiagnosis: Overlap with other syndromes featuring cryptophthalmos or renal agenesis can lead to incorrect classification.


• High Mortality: A significant proportion of pregnancies affected by Fraser syndrome end in miscarriage or stillbirth, which are often not captured in standard disease registries.

At what age does Fraser syndrome manifest?

Fraser syndrome is a congenital condition, meaning it is present at birth. Clinical manifestations, such as cryptophthalmos (hidden eyes), renal agenesis, and syndactyly, are detectable during the neonatal period or via prenatal ultrasound.

Next steps

• Consult a clinical geneticist to discuss genetic testing and family planning options.


• Connect with the DiseaseMaps.org community to share experiences with other families affected by Fraser syndrome.


• Coordinate care with a multidisciplinary team, including pediatric nephrologists, ophthalmologists, and plastic surgeons.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice; always consult with a qualified healthcare professional regarding your specific health situation.

References

• Orphanet: Fraser syndrome (ORPHA:345)


• NIH Genetic and Rare Diseases Information Center (GARD): Fraser syndrome


• OMIM (Online Mendelian Inheritance in Man): #219000 (Fraser syndrome 1)


• PubMed: Clinical reviews on the genetic architecture of FRAS1-related disorders.