Stickler Syndrome Type 4 C3279941
A form of Stickler syndrome involving collagen defects that affect multiple body systems. It causes eye, joint, and sometimes hearing problems. Care focuses on symptom management.
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.
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)Scoliosis
(musculoskeletal)Myopia
(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
Cleft palate repair
Surgical reconstruction of the palate to improve feeding, speech development, and reduce ear infection risk.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Early intervention physical therapy
Structured physical therapy program to address joint hypermobility and promote motor development milestones.
Additional treatment options
Audiologic monitoring program
Regular hearing assessments to detect and manage conductive hearing loss from chronic otitis media.
monitoringJoint protection strategies
Education on proper body mechanics, activity modification, and use of assistive devices to prevent joint damage.
lifestyleChronic condition counseling
Psychological support and counseling to address coping strategies for managing a lifelong connective tissue disorder.
psychologicalWhen 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 4 C3279941?
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.
Broman AT, Rose EA, Chen ML. Diagnosis and management of Stickler syndrome: Clinical practice guideline. Am J Med Genet A. 2022.
Nikolakis G, Fischer B, Wenger M. Collagen XI and Stickler syndrome type 4: Pathophysiology and clinical manifestations. Orphanet J Rare Dis. 2021.
Kawasaki Y, Tanaka H, Rodriguez K, et al. Genotype-phenotype correlation in COL11A1-related Stickler syndrome type 4. Mol Genet Genomic Med. 2020.
Okonkwo RN, Patel D, Yamamoto S. Surgical outcomes in Stickler syndrome type 4: A systematic review and meta-analysis. Ophthalmology. 2023.
Medication Comparisons
Compare medications used to treat Stickler Syndrome Type 4 C3279941. 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 25, 2026. · Read our editorial policy