Coffin-Lowry syndrome synonyms

TL;DR: Coffin-Lowry syndrome is primarily known by its eponymous name, though it is sometimes historically referred to as Coffin-Siris-Lowry syndrome or by the abbreviation CLS. In medical literature, it is officially classified under OMIM #303600 and ORPHA:199, and the name "Coffin-Lowry syndrome" is the universally accepted standard used by clinicians and geneticists today.

What are the historical and alternative names for Coffin-Lowry syndrome?

In the medical community, Coffin-Lowry syndrome is the established name for this rare X-linked genetic disorder. Historically, you may encounter older medical records or literature that incorrectly group it with other developmental conditions. For instance, you might occasionally see the term "Coffin-Siris-Lowry syndrome" in legacy databases, though this is considered a misnomer; Coffin-Siris syndrome is a distinct clinical entity. Additionally, the abbreviation CLS is frequently used in clinical notes and research papers to refer to Coffin-Lowry syndrome. Because this condition was independently described by Grange S. Coffin in 1966 and R. Brian Lowry in 1971, the combined name honors the clinical researchers who first characterized the spectrum of the disorder.

Why does Coffin-Lowry syndrome have multiple names?

The existence of multiple names for Coffin-Lowry syndrome often stems from the evolution of clinical genetics. Before the identification of the RPS6KA3 gene, which causes the condition, clinicians relied solely on phenotypic observation. During this era, researchers sometimes linked the syndrome to other conditions with overlapping physical features. As genetic testing became more sophisticated, medical nomenclature was standardized to prevent confusion. Today, international classification systems like ICD-10/11 and Orphanet have streamlined the terminology to ensure that patients worldwide receive consistent care. Using the recognized name Coffin-Lowry syndrome is essential when searching for the most current clinical trials and peer-reviewed literature.

How is Coffin-Lowry syndrome classified in medical databases?

For the purposes of clinical documentation and insurance coding, it is helpful to know the official identifiers for Coffin-Lowry syndrome. These codes ensure that your medical records are accurately categorized across different healthcare systems:

• OMIM (Online Mendelian Inheritance in Man): #303600


• Orphanet: ORPHA:199


• ICD-10: Q87.8 (Other specified congenital malformation syndromes)


• GARD (Genetic and Rare Diseases Information Center): ID 6210

Are there variations in naming across different countries?

While Coffin-Lowry syndrome is the standard English name, it remains consistent across most international medical traditions. In non-English speaking countries, the name is typically transliterated, but the eponymous "Coffin-Lowry" remains the universal identifier. Within the DiseaseMaps community, which supports 84 members affected by this condition, we emphasize using the standard Coffin-Lowry syndrome nomenclature to ensure that patients can easily connect with global resources and research updates.

Next steps

• Consult with a clinical geneticist to confirm the diagnosis using the standard RPS6KA3 gene testing.


• Use the official identifiers (OMIM #303600) when requesting records from specialists to ensure accurate tracking.


• Join the DiseaseMaps community to connect with other families and share experiences regarding the management of Coffin-Lowry syndrome.


• Visit the NIH GARD website for updated clinical summaries and research progress.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• Orphanet: "Coffin-Lowry syndrome" (ORPHA:199)


• OMIM: "Coffin-Lowry Syndrome; CLS" (MIM #303600)


• NIH GARD: "Coffin-Lowry syndrome" (GARD ID: 6210)


• PubMed: "RPS6KA3 gene mutations in Coffin-Lowry syndrome" (Clinical review literature)