Short answer · Medically reviewed summary · Last updated: 2026-05-08
CLOVES syndrome is an ultra-rare disorder characterized by Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/Skeletal anomalies. While precise global prevalence is unknown, it is estimated to affect fewer than 200 individuals worldwide, though this figure is likely an underestimation due to historical misdiagnosis. How common is CLOVES syndrome? Because CLOVES syndrome is an ultra-rare condition, population-based epidemiological studies are limited.
What is the prevalence of Cloves Syndrome?
Prevalence of Cloves Syndrome: how many people are affected worldwide, differences by sex and region, with sources.
CLOVES syndrome is an ultra-rare disorder characterized by Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/Skeletal anomalies. While precise global prevalence is unknown, it is estimated to affect fewer than 200 individuals worldwide, though this figure is likely an underestimation due to historical misdiagnosis.
How common is CLOVES syndrome?
Because CLOVES syndrome is an ultra-rare condition, population-based epidemiological studies are limited. The disorder is caused by somatic mosaic mutations in the PIK3CA gene, meaning it is not inherited from parents but occurs post-conception. Because it is not a hereditary condition, there is no predictable incidence rate per birth. The current clinical consensus classifies CLOVES syndrome as ultra-rare, with only a small number of confirmed cases documented in medical literature.
What challenges exist in tracking CLOVES syndrome prevalence?
Accurate data collection for CLOVES syndrome is hindered by several factors:
- Diagnostic Complexity: Patients are frequently misdiagnosed with other overgrowth syndromes, such as Proteus syndrome or Klippel-Trenaunay syndrome, before receiving a correct diagnosis.
- Phenotypic Variability: The severity of CLOVES syndrome varies significantly, leading to potential under-reporting of milder cases.
- Lack of Centralized Registries: Because the condition is so rare, global patient registries are still in development.
Are there demographic patterns in CLOVES syndrome?
Current clinical data indicates that CLOVES syndrome affects males and females equally. While the condition is typically identified at birth due to visible physical features, the age of diagnosis can vary depending on the severity of internal vascular or spinal manifestations. There is no evidence suggesting that CLOVES syndrome is more prevalent in any specific geographic region or ethnic group.
How does the DiseaseMaps community reflect these statistics?
At DiseaseMaps.org, we have 7 individuals currently sharing their journey with CLOVES syndrome. While this is a small sample, it underscores the rarity of the condition and provides a vital platform for families to connect, exchange information, and contribute to a better understanding of the patient experience outside of traditional clinical settings.
Next steps
- Consult with a geneticist or a specialist in vascular anomalies to confirm a diagnosis through molecular testing.
- Join the DiseaseMaps.org community to connect with other families living with this rare condition.
- Discuss the potential for targeted therapy, such as PI3K inhibitors, with your medical team.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): CLOVES Syndrome.
- Orphanet: Rare Disease Database (ORPHA: 261245).
- OMIM (Online Mendelian Inheritance in Man): Entry #612918.
- The CLOVES Syndrome Community (patient foundation resource).
