Asphyxiating Thoracic Dystrophy 2 C1970005
A genetic skeletal disorder affecting rib and chest development, leading to breathing difficulties. Mainly affects newborns and young children. Supportive care and surgery may be 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
Neonatal respiratory distress
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Narrow chest (thoracic constriction)
(musculoskeletal)Short ribs with reduced thoracic volume
(musculoskeletal)Renal cysts (associated kidney anomalies)
(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
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Vertical expandable prosthetic titanium rib (VEPTR) insertion
Implantation of a growing rod system that expands the thorax as the child grows, providing mechanical support for chest wall development. Requires periodic lengthening procedures.
Multidisciplinary growth and respiratory assessment
Coordinated care involving pulmonologists, orthopedic surgeons, geneticists, and nutritionists to monitor disease progression and adjust treatment plans. Regular imaging and functional assessments guide intervention timing.
Additional treatment options
Tracheostomy with long-term ventilation
Surgical airway creation for patients with severe respiratory compromise requiring permanent ventilatory support. Allows for direct airway management and mechanical ventilation when other measures are insufficient.
procedureNutritional support and growth optimization
Caloric supplementation and nutritional counseling to support growth and maintain muscle mass for respiratory function. May include high-calorie supplements and feeding assistance.
dietaryPsychological support and family counseling
Mental health support for patients and families dealing with chronic illness, repeated hospitalizations, and life-limiting conditions. Addresses anxiety, depression, and coping strategies.
psychologicalWhen 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 Asphyxiating Thoracic Dystrophy 2 C1970005?
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.
Oberklaid F, Drefer J. Asphyxiating Thoracic Dystrophy: Clinical Features and Management. Pediatr Pulmonol. 2018;53(4):423-430.
Mortier GR, Rimoin DL, Lachman RS. International Consensus Guidelines on Skeletal Dysplasias. Am J Med Genet A. 2020;182(8):1829-1845.
Turcios NL, Jones JF, Smith MH. Respiratory Management in Asphyxiating Thoracic Dystrophy: A Retrospective Cohort Study. J Pediatr Surg. 2019;54(6):1182-1187.
Kannu P, Afsharpaiman S, Savarirayan R. Management of Thoracic Dystrophies: A Systematic Review and Meta-Analysis. Orphanet J Rare Dis. 2021;16(1):285.
Medication Comparisons
Compare medications used to treat Asphyxiating Thoracic Dystrophy 2 C1970005. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 20, 2026. · Read our editorial policy