Cloves Syndrome synonyms

CLOVES syndrome is an acronym standing for Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/Skeletal anomalies. While sometimes referred to as CLOVE syndrome (without the final 'S'), medical professionals now standardize the name as CLOVES syndrome to reflect the essential inclusion of spinal and skeletal anomalies.

Why does CLOVES syndrome have multiple names?

The naming of CLOVES syndrome has evolved as researchers better understood its clinical presentation. Originally, the condition was often grouped under the broader umbrella of Proteus syndrome or Klippel-Trénaunay syndrome due to overlapping features. However, the discovery that CLOVES syndrome is caused by specific somatic activating mutations in the PIK3CA gene led to its recognition as a distinct clinical entity. You may still find older medical literature or international case reports using outdated terminology, which can create confusion for families seeking accurate records.

What are the official classifications for CLOVES syndrome?

In medical databases, CLOVES syndrome is categorized under the umbrella of PIK3CA-Related Overgrowth Spectrum (PROS). Standardized identifiers help clinicians and researchers track the condition globally:

• Orphanet: ORPHA:261248


• OMIM: #612918


• ICD-10/11: Often coded under "Other specified congenital malformations" or "Overgrowth syndromes" due to its rare status.

Which name should patients use when communicating with doctors?

The medical community currently prefers the term CLOVES syndrome. Using this specific name is crucial because it helps doctors differentiate the condition from other vascular or overgrowth disorders. At DiseaseMaps.org, 7 community members have shared their experiences with CLOVES syndrome, noting that using the full acronym helps ensure they are referred to the correct specialists, such as vascular surgeons, geneticists, or pediatric oncologists familiar with PROS.

Next steps

• Confirm your diagnosis with a clinical geneticist who can test for PIK3CA mutations.


• Use the term CLOVES syndrome when searching medical databases like PubMed or NIH GARD to avoid outdated or incorrect information.


• Connect with the DiseaseMaps.org community to learn how others navigate the complexities of this diagnosis.


• Consult with a multidisciplinary team at a center of excellence specializing in vascular anomalies.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; please consult with a qualified healthcare professional regarding your specific diagnosis.

References

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


• Orphanet: CLOVES syndrome (ORPHA:261248)


• OMIM: #612918 (Online Mendelian Inheritance in Man)


• PubMed: Literature on PIK3CA-Related Overgrowth Spectrum (PROS)