Short answer · Medically reviewed summary · Last updated: 2026-05-08
Costello syndrome is a rare genetic disorder characterized by developmental delay, distinct facial features, and a predisposition to specific types of tumors. While officially recognized as Costello syndrome, it is sometimes historically referred to as facio-cutaneous-skeletal syndrome, though this term is now largely obsolete in clinical practice. What are the official names and synonyms for Costello syndrome? In medical literature and official databases, the preferred and most accurate term is Costello syndrome.
Costello Syndrome synonyms
Other names for Costello Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Costello syndrome is a rare genetic disorder characterized by developmental delay, distinct facial features, and a predisposition to specific types of tumors. While officially recognized as Costello syndrome, it is sometimes historically referred to as facio-cutaneous-skeletal syndrome, though this term is now largely obsolete in clinical practice.
What are the official names and synonyms for Costello syndrome?
In medical literature and official databases, the preferred and most accurate term is Costello syndrome. Because this condition was first described by Dr. Jack Costello in 1971, it carries his name as an eponym. In older medical records or international literature, you may occasionally encounter the following synonyms or related descriptive terms:
- Facio-cutaneous-skeletal syndrome
- CS (the standard medical abbreviation)
- Costello-Der Kaloustian syndrome (a rare historical reference)
Why does Costello syndrome have multiple names?
The variation in naming for Costello syndrome often stems from the evolution of clinical genetics. Early descriptions sometimes focused on the physical characteristics—specifically the facial appearance, skin texture, and skeletal anomalies—leading to descriptive names like facio-cutaneous-skeletal syndrome. However, as the genetic cause was identified as a mutation in the HRAS gene, the medical community standardized the nomenclature to Costello syndrome to prevent confusion and ensure consistent classification across global health systems.
How is Costello syndrome classified internationally?
For patients and caregivers, identifying the correct classification codes is essential for insurance and medical documentation. Costello syndrome is tracked in the following major systems:
- OMIM (Online Mendelian Inheritance in Man): #218040
- Orphanet: ORPHA207
- ICD-10: Q87.8 (Other specified congenital malformation syndromes, not elsewhere classified)
Using the official name Costello syndrome when searching databases like NIH GARD will yield the most current research and clinical guidelines.
Next steps
- Consult with a clinical geneticist to confirm your HRAS gene mutation status.
- Join the 13 members of the Costello syndrome community on DiseaseMaps.org to share experiences and coping strategies.
- Register with the Costello Syndrome Family Network for specialized support and updated clinical trial information.
Medical disclaimer: This content is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Costello Syndrome
- Orphanet: Costello Syndrome (ORPHA207)
- OMIM: Entry #218040, Costello Syndrome
- Costello Syndrome Family Network (CSFN)
