Spondylocostal Dysostosis 6 Autosomal Recessive C4225279
A rare genetic disorder causing abnormal formation of vertebrae and ribs. Can result in a shortened torso and respiratory issues. Care focuses on managing symptoms and complications.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature
(musculoskeletal)Spinal deformity
(musculoskeletal)Respiratory insufficiency
(musculoskeletal)Limb disproportion
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Comprehensive spinal reconstruction
Multi-level spinal osteotomies and instrumentation to address severe multi-segmental vertebral anomalies characteristic of this recessive form.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Pulmonary function monitoring
Regular spirometry and respiratory assessments due to high association between spondylocostal dysostosis and restrictive lung disease from chest wall abnormalities.
Additional treatment options
Intensive rehabilitation program
Comprehensive physical therapy addressing spinal mobility, gait training, and functional movement patterns to maximize independence and quality of life.
physical_therapyCT-guided diagnostic evaluation
Detailed CT imaging to characterize the specific vertebral and rib anomalies, guiding surgical planning and assessing suitability for various interventions.
procedureMultidisciplinary care coordination
Coordination among orthopedics, pulmonology, genetics, rehabilitation medicine, and pain specialists to address the complex needs of autosomal recessive spondylocostal dysostosis.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Spondylocostal Dysostosis 6 Autosomal Recessive C4225279?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Sparrow DB, Turnpenny PD, Dunwoodie SL. The molecular basis of spondylocostal dysostosis: advances in understanding Notch signaling and somite segmentation. Nat Rev Genet. 2019.
McGowan KA, Bickham SB, Zaveri MP, et al. Clinical and Molecular Characterization of Autosomal Recessive Spondylocostal Dysostosis Type 6. J Bone Miner Res. 2021.
International Consortium for Vertebral Anomalies and Related Disorders, Ramirez-Castro JL, editor. International Consensus Guidelines for Diagnosis and Management of Spondylocostal Dysostosis Syndromes. Orphanet J Rare Dis. 2022.
Chen LM, Anderson MJ, Kulkarni AB. Skeletal Dysplasias with Vertebral Involvement: A Radiological and Genetic Approach. Radiographics. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy