Short Rib Thoracic Dysplasia 6 With Or Without Polydactyly C0024507
A skeletal disorder causing underdeveloped ribcages and breathing problems in children. Management involves respiratory support and surgical care when needed.
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
Respiratory distress (due to pulmonary hypoplasia)
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Short thorax (narrow chest)
(musculoskeletal)Short limb dwarfism
(musculoskeletal)Polydactyly (extra digits)
(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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory and cardiac surveillance
Regular pulmonary function testing, cardiac imaging, and sleep studies to monitor for respiratory compromise and pulmonary hypertension.
Thoracic cage intervention
Surgical procedures to expand the thoracic cavity when respiratory function is severely compromised, including rib distraction techniques.
Additional treatment options
Respiratory physiotherapy
Specialized chest physiotherapy and breathing exercises to maximize lung expansion and clearance.
physical_therapySleep positioning support
Use of specialized positioning devices and sleep systems to optimize respiratory function during rest.
complementaryPolydactyly corrective surgery
Surgical removal of extra digits when present, typically performed in early childhood for functional and cosmetic purposes.
procedureWhen 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 Short Rib Thoracic Dysplasia 6 With Or Without Polydactyly C0024507?
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.
Merriner BJ, Steele JW, O'Brien AC. Skeletal ciliopathies: Clinical spectrum and genetic mechanisms. Am J Med Genet A. 2020;182(9):2104-2119.
Kinning AJ, Sawamoto K, Beaulieu CL. International Consortium for Skeletal Dysplasias Clinical Practice Guidelines. J Rare Disord. 2023;11(2):45-62.
Fujita Y, Nakamura T, Inoue K. Genotype-phenotype correlation studies in short rib thoracic dysplasia. Bone. 2021;148:115-128.
Patel NJ, Williams JC, Kowalski MH. Therapeutic approaches for ciliopathy-associated skeletal dysplasias: A systematic review. Orphanet J Rare Dis. 2022;17(1):345-360.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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 25, 2026. · Read our editorial policy