Stickler syndrome/COL11A1 mutation associated (type 2)

Genetics

• autosomal dominant
• mutation in COL11A1 gene

Clinical manifestations

• associates ocular signs with
  • more or less complete forms of Pierre Robin sequence
  • bone disorders
    • bones are affected by slight platyspondylisis & large, often defective epiphyses
  • sensorineural deafness
    • the degree of hearing loss varies among affected individuals & may become more severe over time
• ocular signs may include
  • juvenile cataract
  • myopia, strabismus
  • vitreoretinal or chorioretinal degeneration
  • retinal detachment,
  • chronic uveitis
• juvenile joint laxity is followed by early signs of arthrosis
• syndrome expressivity is variable

More general terms

• Stickler syndrome or hereditary progressive arthroophthalmopathy

Additional terms

• collagen 11 alpha-1 (COL11A1, COLL6)

Database

• OMIM: https://mirror.omim.org/entry/604841