Stickler syndrome/COL9A1 mutation associated

Genetics

• autosomal recessive
• associated with defects in COL9A1

Clinical manifestations

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

More general terms

• Stickler syndrome or hereditary progressive arthroophthalmopathy

Additional terms

• collagen 9 alpha-1 (COL9A1)

Database

• OMIM: https://mirror.omim.org/entry/614134