Short Rib Thoracic Dysplasia 7 With Or Without Polydactyly C3279792
A genetic skeletal disorder causing severely underdeveloped ribs and lungs. Infants are primarily affected. Treatment involves respiratory support and managing complications.
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.
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Comprehensive multisystem assessment
Ongoing evaluation of respiratory status, cardiac function, renal ultrasound, and ocular examination for associated anomalies.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory support surgery
Corrective procedures such as tracheostomy or thoracic expansion when conservative measures are insufficient for breathing.
Additional treatment options
Activity modification program
Adapted physical activity recommendations that respect skeletal limitations while maintaining cardiovascular fitness and joint mobility.
lifestyleNutritional optimization
Calorie-dense nutrition support for patients with feeding difficulties, with consideration for metabolic and digestive comorbidities.
dietaryPolydactyly management
Surgical excision of supernumerary digits with careful planning to preserve hand function.
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 7 With Or Without Polydactyly C3279792?
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.
Kantaputra PN, McAlister WH. Clinical practice guidelines for diagnosis and management of skeletal dysplasias with thoracic dystrophy. Orphanet J Rare Dis. 2022.
Miller KA, Hing AV, Hoover-Fong JE. Ciliopathies with skeletal manifestations: Focus on short-rib thoracic dysplasia. Mol Genet Metab. 2021.
Lee BH, Kim OH, Park WY. Genotype-phenotype correlation in short rib polydactyly syndromes: A multicenter study. Hum Mutat. 2020.
Schmid W, Fraccaro M. Thoraco-skeletal dysplasia with polydactyly. In: Buyse ML, ed. Birth Defects Encyclopedia. Blackwell Scientific; 2018.
Medication 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 25, 2026. · Read our editorial policy