Stickler syndrome or hereditary progressive arthroophthalmopathy

Epidemiology

• incidence: 0.01%

Genetics

associated with mutations in various collagen genes

• COL2A1
• COL11A1
• COL11A2
• COL9A1 (autosomal recessive)

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

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

More specific terms

• Stickler syndrome type 1
• Stickler syndrome/COL11A1 mutation associated (type 2)
• Stickler syndrome/COL11A2 mutation associated (type 3)
• Stickler syndrome/COL9A1 mutation associated
• Stickler syndrome/COL9A2 mutation associated (type 5)

Database

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