Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cardiofaciocutaneous (CFC) syndrome does not have a unique, dedicated ICD-10 or ICD-9 code. Clinicians typically use the code Q87.89 (Other specified congenital malformation syndromes) in ICD-10 or 759.89 (Other specified congenital anomalies) in ICD-9 to document the diagnosis for insurance and medical record purposes. What is the clinical classification of Cardiofaciocutaneous syndrome? Cardiofaciocutaneous syndrome is a rare genetic disorder belonging to a group of conditions known as RASopathies, which are caused by mutations in the RAS/MAPK pathway.
ICD10 code of Cardiofaciocutaneous / Cfc Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Cardiofaciocutaneous / Cfc Syndrome, with classification details for clinicians, coders and patients.
Cardiofaciocutaneous (CFC) syndrome does not have a unique, dedicated ICD-10 or ICD-9 code. Clinicians typically use the code Q87.89 (Other specified congenital malformation syndromes) in ICD-10 or 759.89 (Other specified congenital anomalies) in ICD-9 to document the diagnosis for insurance and medical record purposes.
What is the clinical classification of Cardiofaciocutaneous syndrome?
Cardiofaciocutaneous syndrome is a rare genetic disorder belonging to a group of conditions known as RASopathies, which are caused by mutations in the RAS/MAPK pathway. Because Cardiofaciocutaneous syndrome involves a complex combination of cardiac, facial, and dermatological features, it is categorized under broader umbrella codes for congenital syndromes. Currently, 36 individuals living with Cardiofaciocutaneous syndrome have connected through the DiseaseMaps.org platform to share their experiences and navigate these diagnostic challenges.
How is a diagnosis of Cardiofaciocutaneous syndrome confirmed?
While coding relies on general congenital classifications, the definitive diagnosis of Cardiofaciocutaneous syndrome is made through molecular genetic testing. Physicians look for pathogenic variants in specific genes involved in the RAS/MAPK pathway, most commonly:
- BRAF (the most frequently mutated gene in Cardiofaciocutaneous syndrome)
- MAP2K1
- MAP2K2
- KRAS
Why is accurate documentation important for families?
Although Cardiofaciocutaneous syndrome lacks a disease-specific ICD code, accurate clinical documentation is vital for securing specialized therapies. Families should work with their geneticists to ensure the medical record includes the specific genetic mutation identified, as this is often more important for clinical management and access to targeted support services than the general ICD code itself.
Next steps
- Consult with a clinical geneticist to confirm the specific gene mutation associated with your diagnosis.
- Request a detailed clinical summary from your specialist to provide to insurance providers when generic ICD codes are used.
- Join the community of 36 members on DiseaseMaps.org to share resources and clinical experiences.
- Connect with the CFC International foundation for disease-specific support and the latest research updates.
Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider.
References
- NIH Genetic and Rare Diseases (GARD) Information Center: Cardiofaciocutaneous syndrome.
- Orphanet: ORPHA1395 (Cardio-facio-cutaneous syndrome).
- OMIM (Online Mendelian Inheritance in Man): #115150 (Cardiofaciocutaneous Syndrome).
- CFC International: Official patient advocacy organization for Cardiofaciocutaneous syndrome.
