Hes7 Related Spondylocostal Dysostosis Autosomal Recessive Cn381191
A rare skeletal disorder causing abnormal spine and rib development. It leads to a shortened trunk and sometimes breathing problems. Treatment may involve surgery and respiratory support.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Pulmonary hypoplasia
Spinal cord compression
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Vertebral segmentation defects
(musculoskeletal)Thoracic cage abnormalities
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Spinal deformity correction surgery
Surgical intervention to correct severe spinal deformities such as scoliosis or kyphosis associated with spondylocostal dysostosis. The procedure involves spinal fusion and instrumentation to stabilize the vertebral column and prevent progression.
Respiratory function monitoring
Due to associated rib abnormalities and potential lung hypoplasia, regular pulmonary function testing and sleep studies assess respiratory capacity. Early intervention for restrictive lung disease prevents complications.
Additional treatment options
Mobility and posture optimization
Targeted physical therapy focuses on strengthening core muscles, improving posture, and maximizing functional mobility. Aquatic therapy can be particularly beneficial for joint mobility with reduced stress.
physical_therapyThoracoscopic rib fusion release
Minimally invasive surgical release of fused or abnormal ribs to improve chest wall compliance and expand lung capacity. This procedure can significantly improve respiratory function in selected patients.
surgicalPain management and quality of life support
Comprehensive pain management incorporating both pharmacological and non-pharmacological approaches addresses chronic pain associated with skeletal abnormalities. Integrative therapies such as massage and acupuncture may provide adjunctive relief.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Hes7 Related Spondylocostal Dysostosis Autosomal Recessive Cn381191?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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