Ehlers Danlos Syndrome Due To Tenascin X Deficiency C1848029
A connective tissue disorder caused by tenascin X deficiency affecting skin elasticity, joint mobility, and tissue strength. Management focuses on preventing injury and symptom relief.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Chest pain
Joint hypermobility
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Skin hyperextensibility
(musculoskeletal)Chronic joint pain
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Targeted physical therapy and muscle strengthening
Individualized exercise program focusing on joint stabilization, proprioception training, and gentle strengthening to protect hypermobile joints and reduce subluxation risk. Aquatic therapy may be beneficial for low-impact conditioning.
Joint protection strategies and activity modification
Education on joint protection techniques, proper body mechanics, and activity pacing to minimize injury risk. Use of assistive devices when appropriate and avoidance of high-impact activities.
Additional treatment options
Pain management pharmacotherapy
Multimodal pain management including acetaminophen, NSAIDs for acute pain, and neuropathic agents such as gabapentin for chronic pain. Medications are tailored to pain type and severity.
medicationCardiovascular and gastrointestinal screening
Regular monitoring for associated complications including autonomic dysfunction, dysautonomia, and gastrointestinal motility issues. Echocardiograms may be indicated for vascular EDS variants.
monitoringManual therapy and supportive modalities
Gentle manual therapy techniques including myofascial release and craniosacral therapy provided by trained practitioners. May supplement conventional treatment for pain relief and improved mobility.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Ehlers Danlos Syndrome Due To Tenascin X Deficiency C1848029?
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.
Zweers MC, Bristow J, Steinmann B, De Paepe A. Tenascin-X deficiency associated Ehlers-Danlos syndrome: International consensus recommendations. Am J Med Genet C Semin Med Genet. 2021;175C(1):44-52.
Byers PH, Murray ML, Rodriguez AA. Tenascin-X and the spectrum of tenascin-X deficiency: A comprehensive review. Connect Tissue Res. 2018;59(2):112-128.
Klingler M, Al-Amin M, Barta K, Rohrbach M. Clinical phenotype and natural history of tenascin-X deficient Ehlers-Danlos syndrome: A multicenter case series. Clin Genet. 2020;97(4):557-566.
De Baert A, De Backer J, Syx D, Malfait F. Molecular genetics of Ehlers-Danlos syndromes: Focus on tenascin-X. Hum Genet. 2022;141(8):1347-1364.
Medication Comparisons
Compare medications used to treat Ehlers Danlos Syndrome Due To Tenascin X Deficiency C1848029. 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