Short answer · Medically reviewed summary · Last updated: 2026-05-08
Weaver Syndrome is a rare overgrowth disorder primarily known by its eponymous name, though it is sometimes historically referred to as Weaver-Smith syndrome. In clinical databases, it is officially classified as Weaver syndrome, and it is distinguished from other overgrowth conditions by specific genetic mutations in the EZH2 gene. What are the common synonyms for Weaver syndrome? While the medical community almost exclusively uses the term Weaver syndrome, you may encounter older literature or specific medical records referencing the condition as Weaver-Smith syndrome.
Weaver Syndrome synonyms
Other names for Weaver Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Weaver Syndrome is a rare overgrowth disorder primarily known by its eponymous name, though it is sometimes historically referred to as Weaver-Smith syndrome. In clinical databases, it is officially classified as Weaver syndrome, and it is distinguished from other overgrowth conditions by specific genetic mutations in the EZH2 gene.
What are the common synonyms for Weaver syndrome?
While the medical community almost exclusively uses the term Weaver syndrome, you may encounter older literature or specific medical records referencing the condition as Weaver-Smith syndrome. This name originated from the early clinical reports by Dr. David Weaver and Dr. David Smith in 1974. Because Weaver syndrome is a rare, distinct clinical entity, there are very few true synonyms, as most alternative names have been phased out to avoid confusion with other overgrowth disorders like Sotos syndrome.
How is Weaver syndrome classified in medical systems?
Standardized nomenclature is essential for accurate medical coding and research. You will find Weaver syndrome categorized in the following international systems:
- OMIM (Online Mendelian Inheritance in Man): Listed under entry #277590.
- Orphanet: Identified by the unique code ORPHA:908.
- ICD-10/11: Often coded under broader categories for overgrowth syndromes, such as Q87.3 (congenital malformation syndromes with overgrowth).
Why does Weaver syndrome have different names in literature?
The variation in naming for Weaver syndrome is largely historical. In the 1970s and 80s, many syndromes were named after the physicians who first described them. As molecular genetics advanced, researchers moved away from eponymous naming conventions toward names that describe the genetic etiology, such as EZH2-related overgrowth. Today, Weaver syndrome remains the preferred clinical term because it is universally recognized by clinicians and geneticists worldwide.
Next steps
- Consult a clinical geneticist to confirm a diagnosis through EZH2 gene sequencing.
- Connect with the 6 members of the Weaver syndrome community on DiseaseMaps.org to share experiences.
- Request that your medical records use the official term Weaver syndrome to ensure consistency across specialist referrals.
Medical disclaimer: This information is for educational purposes and should not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: orpha.net (Search: Weaver syndrome)
- NIH GARD: rarediseases.info.nih.gov
- OMIM: omim.org (Entry #277590)
