Short answer · Medically reviewed summary · Last updated: 2026-05-08
Wiedemann-Steiner Syndrome is primarily known by its eponymous name, though it is occasionally referred to as Hirsutism-Intellectual Disability-Dysmorphism Syndrome. Medical professionals and researchers officially recognize the condition as Wiedemann-Steiner Syndrome, which is classified in the OMIM database as #605130 and under Orphanet as ORPHA:3241. Why does Wiedemann-Steiner Syndrome have multiple names? Medical nomenclature for Wiedemann-Steiner Syndrome has evolved as genetic testing has advanced.
1 people with Wiedemann-Steiner Syndrome have shared their first-person experience on this question at DiseaseMaps.
Wiedemann-Steiner Syndrome synonyms
Other names for Wiedemann-Steiner Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Wiedemann-Steiner Syndrome is primarily known by its eponymous name, though it is occasionally referred to as Hirsutism-Intellectual Disability-Dysmorphism Syndrome. Medical professionals and researchers officially recognize the condition as Wiedemann-Steiner Syndrome, which is classified in the OMIM database as #605130 and under Orphanet as ORPHA:3241.
Why does Wiedemann-Steiner Syndrome have multiple names?
Medical nomenclature for Wiedemann-Steiner Syndrome has evolved as genetic testing has advanced. Historically, the condition was described based on its clinical presentation, leading to descriptive terms like "Hirsutism-Intellectual Disability-Dysmorphism Syndrome." These older names were used before the underlying genetic cause—pathogenic variants in the KMT2A gene—was identified. Today, the medical community prefers the eponym Wiedemann-Steiner Syndrome to honor the researchers who first characterized the clinical features, ensuring consistent terminology across global research and clinical records.
What are the common synonyms and identifiers for this condition?
When searching for information or reviewing medical records for Wiedemann-Steiner Syndrome, you may encounter several identifiers. It is important to note that while descriptive names exist, they are increasingly replaced by the standard eponym to prevent confusion. Common identifiers include:
- Wiedemann-Steiner Syndrome (Current preferred term)
- Hirsutism-Intellectual Disability-Dysmorphism Syndrome (Historical/Descriptive)
- WSS (Common abbreviation)
- OMIM ID: #605130
- Orphanet ID: ORPHA:3241
How is the syndrome classified in medical systems?
In international clinical practice, Wiedemann-Steiner Syndrome is categorized by its genetic etiology. Because it is a rare genetic disorder, it is most frequently identified in medical literature and diagnostic databases by its OMIM number (#605130). Being part of the 193-member community on DiseaseMaps.org, patients often find that using the official name Wiedemann-Steiner Syndrome yields the most accurate results in peer-reviewed journals and clinical trial databases.
Next steps
- Consult a clinical geneticist to confirm a diagnosis through KMT2A gene sequencing.
- Join the Wiedemann-Steiner Syndrome community at DiseaseMaps.org to connect with others sharing similar experiences.
- Request that your medical providers use the standard term Wiedemann-Steiner Syndrome in your electronic health records to ensure consistency across specialists.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a physician or other qualified health provider with questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Wiedemann-Steiner Syndrome
- OMIM (Online Mendelian Inheritance in Man): #605130
- Orphanet: ORPHA:3241
- Wiedemann-Steiner Syndrome Foundation
Posted Jan 16, 2018 by anonymous 3980
