Short answer · Medically reviewed summary · Last updated: 2026-05-08
Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by intellectual disability, developmental delay, and hypoplasia of the fifth digit or nail. While formally known as Coffin-Siris syndrome in medical literature, it is sometimes referred to as "Fifth digit syndrome" in older texts, though this term is now considered imprecise and is rarely used in modern clinical practice. Why does Coffin-Siris syndrome have multiple names? Medical nomenclature for Coffin-Siris syndrome has evolved significantly since its first description by Grange S.
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Coffin Siris Syndrome synonyms
Other names for Coffin Siris Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by intellectual disability, developmental delay, and hypoplasia of the fifth digit or nail. While formally known as Coffin-Siris syndrome in medical literature, it is sometimes referred to as "Fifth digit syndrome" in older texts, though this term is now considered imprecise and is rarely used in modern clinical practice.
Why does Coffin-Siris syndrome have multiple names?
Medical nomenclature for Coffin-Siris syndrome has evolved significantly since its first description by Grange S. Coffin and Evelyn Siris in 1970. Historically, the condition was sometimes categorized under broader umbrella terms due to its overlapping clinical features with other developmental disorders. Today, the medical community favors the eponymous name Coffin-Siris syndrome to ensure consistency in international clinical records and genetic research.
What are the common synonyms for Coffin-Siris syndrome?
While Coffin-Siris syndrome is the standard medical term, you may encounter the following identifiers in older literature or specific genetic databases:
- Fifth-digit syndrome (historical/descriptive)
- CSS (standard clinical abbreviation)
- Intellectual disability-hypoplastic fifth finger/nail syndrome (descriptive classification)
How is the condition classified in medical databases?
Standardized classification systems help clinicians track Coffin-Siris syndrome globally. These systems provide the most reliable coding for medical records and insurance purposes:
- Orphanet: ORPHA1993
- OMIM (Online Mendelian Inheritance in Man): #135900 (and associated subtypes)
- ICD-10/11: Often coded under "Other specified congenital malformation syndromes" due to the high genetic heterogeneity of the condition.
Why is precise terminology important for patients?
Using the correct name, Coffin-Siris syndrome, is essential when communicating with specialists, as the condition is now understood to be caused by mutations in multiple genes involved in the BAF chromatin remodeling complex. Precise terminology ensures that your medical team is referencing the most current diagnostic criteria and genetic testing protocols.
Next steps
- Consult with a clinical geneticist to confirm your specific molecular diagnosis within the Coffin-Siris syndrome spectrum.
- Connect with the 212 members of the DiseaseMaps.org community to share experiences and find peer support.
- Visit the NIH GARD website to access the most recent clinical updates on management and care.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: Coffin-Siris syndrome (ORPHA1993)
- NIH Genetic and Rare Diseases Information Center (GARD): Coffin-Siris syndrome
- OMIM: Coffin-Siris Syndrome 1 (#135900)
- Coffin-Siris Syndrome Foundation: Patient-focused clinical resources
Posted Mar 16, 2019 by SBB 600
