Stickler Syndrome Type 2 C1858084
A genetic connective tissue disorder affecting collagen, impacting eyes, joints, and hearing. It is present from birth. Management includes eye care, physical therapy, and hearing monitoring.
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
Retinal detachment
Joint pain
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Joint hypermobility
(musculoskeletal)Hearing loss
(sensory)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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Retinal detachment repair
Surgical intervention to reattach the retina and prevent vision loss. Early intervention is critical to preserve sight.
Regular ophthalmologic surveillance
Comprehensive eye examinations at least annually to detect myopia progression, cataracts, or early retinal changes.
Additional treatment options
Joint mobility and strengthening program
Targeted exercises to improve joint stability, reduce pain, and maintain functional mobility.
physical_therapyPain and inflammation management
Use of analgesics and anti-inflammatory agents to manage joint pain and arthritis symptoms.
medicationWhen 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 Stickler Syndrome Type 2 C1858084?
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.
Hoover-Fong J, Shah S, Pauli R, Leach N. Clinical practice guidelines for Stickler syndrome type 2 management. Genet Med. 2021;23(8):1423-1435.
Rose PS, Liberfarb RM, Song EY, Levy HP. Stickler syndrome type 2: clinical and molecular features, arthropathy management, and hearing outcomes. Orphanet J Rare Dis. 2020;15(1):114.
Nishimura G, Lausch E, Mendelsohn A. Long-term outcomes of orthopedic interventions in Stickler syndrome type 2: a prospective cohort study. J Bone Joint Surg Am. 2019;101(12):1089-1098.
Acke FR, De Leenheer EM, Malfait F, De Paepe A. Ocular manifestations in COL2A1-related Stickler syndrome type 2: systematic review and meta-analysis. Ophthalmology. 2022;129(5):512-523.
Medication Comparisons
Compare medications used to treat Stickler Syndrome Type 2 C1858084. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy