Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cohen Syndrome is classified under the ICD-10-CM code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) and the ICD-9-CM code 759.89 (Other specified congenital anomalies). Because Cohen Syndrome is a rare genetic disorder, it does not have a unique, disease-specific code in either system, necessitating the use of these broader classifications for billing and medical record documentation. What is the clinical significance of Cohen Syndrome? Cohen Syndrome is a rare, multisystem genetic disorder characterized by non-progressive intellectual disability, microcephaly, distinct facial features, and progressive retinal dystrophy.
3 people with Cohen Syndrome have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Cohen Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Cohen Syndrome, with classification details for clinicians, coders and patients.
Cohen Syndrome is classified under the ICD-10-CM code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) and the ICD-9-CM code 759.89 (Other specified congenital anomalies). Because Cohen Syndrome is a rare genetic disorder, it does not have a unique, disease-specific code in either system, necessitating the use of these broader classifications for billing and medical record documentation.
What is the clinical significance of Cohen Syndrome?
Cohen Syndrome is a rare, multisystem genetic disorder characterized by non-progressive intellectual disability, microcephaly, distinct facial features, and progressive retinal dystrophy. Clinicians often observe hypotonia and joint laxity in early childhood. Managing Cohen Syndrome requires a multidisciplinary team, as the condition impacts vision, motor development, and social-emotional growth throughout a patient's lifespan.
How is Cohen Syndrome diagnosed and managed?
Diagnosis of Cohen Syndrome is typically confirmed through molecular genetic testing, specifically identifying pathogenic variants in the VPS13B gene (formerly COH1). While there is no cure, care focuses on supportive therapies:
- Regular ophthalmological screenings to monitor for high myopia and retinal degeneration.
- Early intervention programs, including physical, occupational, and speech therapy.
- Special education support to address learning disabilities and social communication challenges.
- Hematological monitoring, as some patients with Cohen Syndrome may experience chronic neutropenia.
Is Cohen Syndrome hereditary?
Yes, Cohen Syndrome is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated VPS13B gene—one from each carrier parent—to express the condition. Parents of an affected child have a 25% recurrence risk for each subsequent pregnancy.
Next steps
- Consult with a clinical geneticist to discuss VPS13B testing and family counseling.
- Connect with the 118 members of the Cohen Syndrome community on DiseaseMaps.org for peer support.
- Register with the NIH Genetic and Rare Diseases (GARD) Information Center for updates on clinical research.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: Cohen Syndrome (ORPHA:193)
- NIH GARD: Cohen Syndrome (GARD ID: 6159)
- OMIM: Cohen Syndrome (Entry #216550)
- PubMed: Clinical and genetic spectrum of VPS13B-related disorders.
744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
You will need to look through your neurologist's documentation to pick up the patient's signs and symptoms of Cohen's Syndrome. Common characteristics include reduced muscle tone, also known as hypotonia (359.0, Muscular dystrophies and other myopathies), developmental delays (314.x, Hyperkinetic syndrome of childhood), intellectual disabilities (317, Mild mental retardation \" 319, Unspecified mental retardation), small head size (742.1), and obesity (278.0x).
Posted Sep 8, 2017 by Macayla 1900
Posted Sep 8, 2017 by Melodie 2000
Posted Sep 8, 2017 by Emme 1800
