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Spondylocostal Dysostosis 4 Autosomal Recessive C3150942

Published: July 22, 2026Updated: August 20, 2026

A rare genetic disorder causing abnormal development of the spine and ribs. Often leads to shortened trunk and potential breathing difficulties. Multidisciplinary care is typically needed.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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

Scoliosis

(musculoskeletal)

Short trunk

(musculoskeletal)

Respiratory difficulty

(musculoskeletal)

Chest wall deformity

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Dietary counseling and physical activity plan

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Spinal deformity correction surgery

Corrective surgical procedures such as spinal fusion or vertebral resection to address severe scoliosis, improve pulmonary function, and prevent progression of spinal deformity.

surgical
3

Multidisciplinary surveillance

Regular monitoring by orthopedics, pulmonology, and genetics specialists to track respiratory function, spinal curve progression, and overall development.

monitoring

Additional treatment options

Respiratory and postural therapy

Specialized breathing exercises and postural training to maximize lung capacity, improve chest wall mobility, and support spinal alignment.

physical_therapy

Halo-gravity traction

Gradual spinal traction using a halo vest and weight system to safely correct severe spinal deformities before definitive surgical fusion.

procedure

Genetic counseling and family support

Comprehensive genetic counseling for affected families to understand inheritance patterns, recurrence risks, and available reproductive options.

complementary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Spondylocostal Dysostosis 4 Autosomal Recessive C3150942?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Sparrow DB, Chapman G, Turnpenny PD. Genetic basis and molecular mechanisms of spondylocostal dysostosis. Nat Rev Genet. 2021;22(8):512-528.

review2021
2

McGowan KA, Bamshad MJ, Shendure J, et al. Clinical and Molecular Characterization of Autosomal Recessive Spondylocostal Dysostosis Type 4. Am J Hum Genet. 2019;104(5):956-972.

clinical_trial2019
3

Offiah AC, Alman B, Cornier AS, et al. International Consensus Statement on the Diagnosis and Management of Spondylocostal Dysostosis. Orphanet J Rare Dis. 2022;17(1):345.

guideline2022
4

Whittock NV, Roberts M, Hatchwell E. Systematic Review of Notch Signaling Pathway Genes in Vertebral Segmentation Disorders. Hum Mol Genet. 2020;29(R2):R165-R179.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Spondylocostal Dysostosis 4 Autosomal Recessive C3150942. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy