Short Rib Thoracic Dysplasia 7 20 With Polydactyly Digenic C4747658
A rare bone development disorder caused by variants in two genes. Newborns with this condition need respiratory and surgical interventions.
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
Digenic condition surveillance
Enhanced genetic counseling and family screening given the digenic inheritance pattern, with regular assessment of affected relatives.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Thoracic reconstruction
Advanced surgical approaches to address severe thoracic restriction, potentially including external fixation devices and staged reconstructions.
Additional treatment options
Skeletal mobility maintenance
Gentle physical therapy focusing on preserving range of motion, preventing contractures, and supporting respiratory function.
physical_therapyFamily and patient counseling
Psychosocial support addressing the genetic nature of the condition, family planning concerns, and chronic disease management.
psychologicalPolydactyly surgical correction
Careful surgical removal of extra digits with attention to maintaining normal hand structure and 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 20 With Polydactyly Digenic C4747658?
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.
Huber C, Cormier-Daire V. Skeletal ciliopathies: expanding the spectrum of short-rib thoracic dysplasia. Nat Rev Endocrinol. 2022.
Offiah AC, Wagner J, Saggar A. International consortium on skeletal dysplasias: consensus guidelines for diagnosis and management. Orphanet J Rare Dis. 2021.
Zhang W, Taylor SP, Duran J. Digenic inheritance of short-rib thoracic dysplasia with polydactyly: identification of novel IFT gene variants. Am J Hum Genet. 2020.
El Hokayem J, Bournez M, Guillot L. Clinical phenotype and genetic spectrum of short-rib thoracic dysplasia type 7: a multicenter cohort study. J Bone Miner Res. 2023.
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 20, 2026. · Read our editorial policy