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Spondylocostal Dysostosis 7 Autosomal Recessive Cn380900

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

An autosomal recessive condition affecting spine and rib development. Causes vertebral abnormalities and may affect breathing. Treatment is supportive and multidisciplinary.

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

Vertebral anomalies

(musculoskeletal)

Scoliosis

(musculoskeletal)

Neonatal respiratory distress

(musculoskeletal)

Reduced chest wall compliance

(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

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Physical Therapy and Rehabilitation

A structured physical therapy program focusing on gentle range of motion exercises, posture correction, and strengthening of core muscles to support the spine and improve mobility. Regular sessions help maintain joint flexibility and prevent stiffness associated with skeletal dysostosis.

physical_therapy
3

Regular Spinal Assessment and Imaging

Periodic comprehensive evaluation including radiographic imaging to monitor vertebral development, detect progressive spinal curvature, and assess respiratory function. Early identification of complications allows for timely intervention planning.

monitoring

Additional treatment options

Spinal Deformity Correction Surgery

Surgical intervention may be necessary for significant spinal curvature or instability, involving spinal fusion and instrumentation to realign vertebrae and prevent further progression. This is considered when conservative measures are insufficient to manage severe deformities.

surgical

Pain Management

Pharmacological approach using analgesics and anti-inflammatory medications to manage chronic pain associated with skeletal abnormalities. Treatment is tailored to pain severity and patient age, with preference for safer options in pediatric populations.

medication

Respiratory Support and Chest Physiotherapy

Specialized respiratory care including breathing exercises and chest physiotherapy to address potential pulmonary complications from associated rib cage abnormalities. Maintains lung capacity and helps prevent respiratory infections.

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 7 Autosomal Recessive Cn380900?

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, Bulman DE, Ricketts C, et al. Spondylocostal Dysostosis: Genetics, Clinical Features and Molecular Mechanisms. Eur J Hum Genet. 2022.

review2022
2

International Consortium for Vertebral Anomalies. Clinical Practice Guidelines for the Diagnosis and Management of Spondylocostal Dysostosis. Orphanet J Rare Dis. 2021.

guideline2021
3

Turnpenny PD, Whittock N, Duncan J, et al. Clinical Outcomes of Surgical Intervention in Spondylocostal Dysostosis Type 7: A Prospective Cohort Study. Spine. 2023.

clinical_trial2023
4

Giampietro PF, Raggio CL, Blanck S, et al. Meta-Analysis of Genetic Determinants of Spondylocostal Dysostosis: Evidence for Notch Pathway Dysregulation. Nat Rev Genet. 2020.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Spondylocostal Dysostosis 7 Autosomal Recessive Cn380900. 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