Short answer · Medically reviewed summary · Last updated: 2026-05-08
Jarcho-Levin Syndrome, a rare condition characterized by vertebral and rib malformations, is classified under ICD-10 code Q76.8 (Other congenital malformations of bony thorax) and ICD-9 code 756.19 (Other anomalies of spine). Because this is a rare, complex diagnosis, these codes are often used to categorize the skeletal manifestations while clinicians also use specific codes for associated respiratory complications. What is the clinical definition of Jarcho-Levin Syndrome? Jarcho-Levin Syndrome, also known as spondylocostal dysostosis, involves severe congenital malformations of the ribs and vertebrae.
ICD10 code of Jarcho-Levin Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Jarcho-Levin Syndrome, with classification details for clinicians, coders and patients.
Jarcho-Levin Syndrome, a rare condition characterized by vertebral and rib malformations, is classified under ICD-10 code Q76.8 (Other congenital malformations of bony thorax) and ICD-9 code 756.19 (Other anomalies of spine). Because this is a rare, complex diagnosis, these codes are often used to categorize the skeletal manifestations while clinicians also use specific codes for associated respiratory complications.
What is the clinical definition of Jarcho-Levin Syndrome?
Jarcho-Levin Syndrome, also known as spondylocostal dysostosis, involves severe congenital malformations of the ribs and vertebrae. Patients with Jarcho-Levin Syndrome often present with a short trunk and a narrow, fan-like chest configuration. The clinical severity of Jarcho-Levin Syndrome varies significantly; some individuals may have minimal respiratory impairment, while others face life-threatening breathing difficulties due to reduced thoracic volume.
How is Jarcho-Levin Syndrome diagnosed?
Diagnosis of Jarcho-Levin Syndrome is typically made through physical examination and imaging studies such as X-rays, CT scans, or MRIs. Genetic testing is increasingly important, as mutations in genes like DLL3, MESP2, LFNG, and HES7 have been linked to the development of Jarcho-Levin Syndrome. Our DiseaseMaps.org community, which includes 5 members living with Jarcho-Levin Syndrome, highlights the importance of early skeletal and pulmonary monitoring.
What are the common medical considerations?
Management of Jarcho-Levin Syndrome requires a multidisciplinary team approach. Key areas of focus include:
- Pulmonary function: Regular monitoring of respiratory capacity to address potential thoracic insufficiency.
- Orthopedic support: Evaluation of spinal curvature and rib cage stability.
- Genetic counseling: Assessing the recurrence risk, as many forms of Jarcho-Levin Syndrome follow an autosomal recessive inheritance pattern.
- Supportive care: Early intervention services to assist with developmental milestones.
Next steps
- Consult with a pediatric geneticist to discuss potential underlying gene mutations associated with Jarcho-Levin Syndrome.
- Schedule regular check-ups with a pulmonologist to manage thoracic growth and lung health.
- Connect with the 5 community members on DiseaseMaps.org to share experiences and coping strategies.
- Seek support from organizations like the NORD (National Organization for Rare Disorders) for additional patient resources.
Medical disclaimer: This information is for educational purposes only and does not substitute professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Spondylocostal dysostosis.
- Orphanet: Spondylocostal dysostosis (ORPHA:804).
- OMIM (Online Mendelian Inheritance in Man): Entry #609813.
- ICD-10 Data: Q76.8 - Other congenital malformations of bony thorax.
