Short answer · Medically reviewed summary · Last updated: 2026-05-08
Mainzer-Saldino syndrome does not have a unique, dedicated ICD-10 or ICD-9 code, as it is a rare ciliopathy often classified under broader categories for renal-retinal syndromes or skeletal dysplasias. Clinicians typically use codes for associated manifestations, such as Q77.5 for achondroplasia (due to skeletal similarities) or H35.5 for hereditary retinal dystrophies, to facilitate medical billing and documentation. What is the clinical classification of Mainzer-Saldino syndrome? Mainzer-Saldino syndrome is a rare, genetically heterogeneous ciliopathy characterized by the triad of chronic renal disease, retinal dystrophy, and skeletal abnormalities.
ICD10 code of Mainzer-Saldino syndrome and ICD9 code
ICD-10 and ICD-9 codes for Mainzer-Saldino syndrome, with classification details for clinicians, coders and patients.
Mainzer-Saldino syndrome does not have a unique, dedicated ICD-10 or ICD-9 code, as it is a rare ciliopathy often classified under broader categories for renal-retinal syndromes or skeletal dysplasias. Clinicians typically use codes for associated manifestations, such as Q77.5 for achondroplasia (due to skeletal similarities) or H35.5 for hereditary retinal dystrophies, to facilitate medical billing and documentation.
What is the clinical classification of Mainzer-Saldino syndrome?
Mainzer-Saldino syndrome is a rare, genetically heterogeneous ciliopathy characterized by the triad of chronic renal disease, retinal dystrophy, and skeletal abnormalities. Because it is a multisystem disorder, medical coding for Mainzer-Saldino syndrome often requires a combination of codes to capture the full clinical picture. The condition is closely related to other nephronophthisis-associated ciliopathies, which influences how providers document Mainzer-Saldino syndrome in electronic health records.
What are the primary features of Mainzer-Saldino syndrome?
Individuals diagnosed with Mainzer-Saldino syndrome often present with symptoms that overlap with other ciliopathies. The clinical presentation typically includes:
- Skeletal involvement: Cone-shaped epiphyses, particularly in the phalanges.
- Renal impairment: Nephronophthisis, which often progresses to end-stage renal disease (ESRD) in childhood or adolescence.
- Ocular findings: Early-onset tapetoretinal degeneration leading to vision loss.
- Cerebellar symptoms: Occasional reports of ataxia or cognitive delays in some patients with Mainzer-Saldino syndrome.
Is Mainzer-Saldino syndrome hereditary?
Yes, Mainzer-Saldino syndrome is inherited in an autosomal recessive pattern. Mutations in genes such as IFT140, WDR19, and CEP290 have been linked to the phenotype. Because Mainzer-Saldino syndrome is rare, genetic counseling is essential for families to understand the 25% recurrence risk for siblings of an affected individual.
Next steps
- Consult a clinical geneticist to confirm the diagnosis via molecular testing.
- Coordinate care with a multidisciplinary team including a nephrologist and an ophthalmologist.
- Connect with the 2 community members on DiseaseMaps.org to share experiences and coping strategies for managing Mainzer-Saldino syndrome.
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 regarding a medical condition.
References
- Orphanet: Mainzer-Saldino syndrome (ORPHA:2454)
- NIH GARD: Mainzer-Saldino syndrome (GARD ID: 7035)
- OMIM: Mainzer-Saldino Syndrome (OMIM #266920)
- PubMed: Clinical and molecular updates on nephronophthisis-associated ciliopathies
