Stickler syndrome type 1

Genetics

• autosomal dominant
• mutation in COL2A1 gene

Clinical manifestations

• ocular signs
  • juvenile cataract
  • myopia
  • strabismus,
  • vitreoretinal or chorioretinal degeneration
  • retinal detachment
  • chronic uveitis
• bone disorders & sensorineural deafness.
• Robin sequence includes
  • cleft palate
  • macroglossia
  • micrognathia
• bones are affected by slight platyspondylisis & large, often defective epiphysis
• juvenile joint laxity is followed by early signs of arthrosis
• the degree of hearing loss varies among patients & may become more severe over time
• syndrome expressivity is variable

More general terms

• Stickler syndrome or hereditary progressive arthroophthalmopathy

Additional terms

• collagen 2 alpha-1; contains: chondrocalcin (COL2A1)

Database

• OMIM: https://mirror.omim.org/entry/108300
• OMIM: https://mirror.omim.org/entry/120140
• OMIM: https://mirror.omim.org/entry/609508