Short answer · Medically reviewed summary · Last updated: 2026-05-08
Ruvalcaba syndrome, historically referred to as Ruvalcaba-Myhre-Smith syndrome, does not have a unique, dedicated ICD-10 or ICD-9 code; it is typically classified under broader categories for polyposis syndromes or intellectual disability disorders. Because Ruvalcaba syndrome is often considered an overlapping phenotype within the PTEN hamartoma tumor syndrome (PHTS) spectrum, clinicians frequently utilize codes related to Cowden syndrome or general hamartomatous polyposis when billing for these patients. What is the clinical significance of Ruvalcaba syndrome? Ruvalcaba syndrome is a rare genetic condition characterized by the triad of intestinal hamartomatous polyposis, macrocephaly, and developmental delay.
ICD10 code of Ruvalcaba Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Ruvalcaba Syndrome, with classification details for clinicians, coders and patients.
Ruvalcaba syndrome, historically referred to as Ruvalcaba-Myhre-Smith syndrome, does not have a unique, dedicated ICD-10 or ICD-9 code; it is typically classified under broader categories for polyposis syndromes or intellectual disability disorders. Because Ruvalcaba syndrome is often considered an overlapping phenotype within the PTEN hamartoma tumor syndrome (PHTS) spectrum, clinicians frequently utilize codes related to Cowden syndrome or general hamartomatous polyposis when billing for these patients.
What is the clinical significance of Ruvalcaba syndrome?
Ruvalcaba syndrome is a rare genetic condition characterized by the triad of intestinal hamartomatous polyposis, macrocephaly, and developmental delay. Patients with Ruvalcaba syndrome often present with pigmented macules on the glans penis, which is a hallmark clinical sign. Because Ruvalcaba syndrome is now clinically recognized as part of the PTEN hamartoma tumor syndrome spectrum, it shares a genetic basis with conditions involving mutations in the PTEN gene.
How is Ruvalcaba syndrome diagnosed and classified?
Diagnosis of Ruvalcaba syndrome relies on a combination of clinical assessment and molecular genetic testing. Since there is no specific ICD code for Ruvalcaba syndrome, medical professionals often use the following approaches to classify the condition for insurance and research purposes:
- ICD-10 D12.6: Benign neoplasm of intestine, unspecified (used for polyposis manifestations).
- ICD-10 Q87.8: Other specified congenital malformation syndromes.
- Molecular confirmation via PTEN gene sequencing to confirm inclusion in the broader PHTS spectrum.
Is Ruvalcaba syndrome hereditary?
Yes, Ruvalcaba syndrome is inherited in an autosomal dominant pattern. This means an individual with Ruvalcaba syndrome has a 50% chance of passing the causative mutation to their offspring. Genetic counseling is vital for families, as the expression of the condition can vary significantly even among individuals with the same genetic mutation.
Next steps
- Consult with a clinical geneticist to discuss PTEN mutation testing.
- Schedule regular screenings for gastrointestinal polyps to mitigate long-term risks.
- Connect with the 24 members of the DiseaseMaps.org community who are living with Ruvalcaba syndrome to share experiences and coping strategies.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment from a qualified healthcare provider.
References
- NIH Genetic and Rare Diseases Information Center (GARD): PTEN hamartoma tumor syndrome.
- OMIM (Online Mendelian Inheritance in Man): Entry #153480 (Ruvalcaba-Myhre-Smith syndrome).
- Orphanet: PTEN hamartoma tumor syndrome.
- PubMed: Clinical reviews on the spectrum of PTEN-related disorders.
