Stickler Syndrome

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Contents 1 More Specific Terms 2 Introduction 3 Genetics 4 More General Terms 5 Internet Database 6 References

More Specific Terms

• Stickler syndrome/COL11A1 mutation associated
• Stickler syndrome/COL11A2 mutation associated
• Stickler syndrome/COL2A1 mutation associated

Introduction

• Incidence: 1 in 10,000

Genetics

• associated with mutations in various collagen genes

• COL2A1
• COL11A1
• COL11A2

More General Terms

• osteochondrodysplasia
• eye disease (ophthalmopathy)
• joint disease; articular disease; arthropathy
• genetic syndrome (multisystem disorder)

Internet Database

OMIM: 108300

References

1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2191-92
2. OMIM 108300
3. Stickler syndrome [1]

Stickler syndrome or hereditary progressive arthroophthalmopathy