Short answer · Medically reviewed summary · Last updated: 2026-05-08
Joubert Syndrome is classified under the ICD-10-CM code Q04.8 (Other specified congenital malformations of brain) and the ICD-9-CM code 742.8 (Other specified anomalies of brain). Because Joubert Syndrome is a rare ciliopathy, these codes are often used for administrative and billing purposes, though clinicians may also use supplemental codes to describe specific neurological and multisystem features. Why are specific ICD codes used for Joubert Syndrome? Because there is no single, unique ICD code dedicated exclusively to Joubert Syndrome, medical systems utilize broader categories to capture the condition.
ICD10 code of Joubert Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Joubert Syndrome, with classification details for clinicians, coders and patients.
Joubert Syndrome is classified under the ICD-10-CM code Q04.8 (Other specified congenital malformations of brain) and the ICD-9-CM code 742.8 (Other specified anomalies of brain). Because Joubert Syndrome is a rare ciliopathy, these codes are often used for administrative and billing purposes, though clinicians may also use supplemental codes to describe specific neurological and multisystem features.
Why are specific ICD codes used for Joubert Syndrome?
Because there is no single, unique ICD code dedicated exclusively to Joubert Syndrome, medical systems utilize broader categories to capture the condition. Joubert Syndrome is defined by the hallmark "molar tooth sign" on brain MRI, which reflects cerebellar vermis hypoplasia and brainstem malformations. Utilizing accurate coding helps ensure that the 82 members of the DiseaseMaps community and other patients receive appropriate support and insurance coverage for the complex, multisystem care that Joubert Syndrome requires.
What clinical features characterize Joubert Syndrome?
Joubert Syndrome is a genetic disorder that affects the primary cilia of cells. The clinical presentation is highly variable, but typically includes:
- Hypotonia (low muscle tone) in infancy.
- Ataxia (difficulty with coordination and balance).
- Abnormal eye movements, such as oculomotor apraxia.
- Developmental delays and intellectual disability of varying degrees.
- Respiratory dysregulation, specifically episodic tachypnea (rapid breathing) or apnea.
Is Joubert Syndrome hereditary?
Yes, Joubert Syndrome is a genetic condition typically inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of a mutated gene—one from each parent—to manifest the disorder. To date, mutations in more than 35 different genes have been associated with Joubert Syndrome, making genetic counseling essential for families navigating the diagnosis.
Next steps
- Consult with a clinical geneticist to discuss genetic testing and familial risk assessment.
- Schedule regular evaluations with a pediatric neurologist to monitor the progression of Joubert Syndrome.
- Connect with the 82 members of the DiseaseMaps.org community to share experiences and coping strategies.
- Visit the Joubert Syndrome and Related Disorders Foundation (JSRDF) for disease-specific educational resources.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Joubert Syndrome.
- Orphanet: Joubert Syndrome (ORPHA:475).
- OMIM (Online Mendelian Inheritance in Man): Entry #213300.
- Joubert Syndrome and Related Disorders Foundation (JSRDF).
