Stickler syndrome/COL9A2 mutation associated (type 5)

Genetics

• autosomal recessive
• associated with defects in COL9A2

Clinical manifestations

• associates ocular signs with
  • absence of cleft palate & Pierre Robin sequence
  • mild sensorineural deafness
• ocular disorders may include
  • myopia
  • vitreoretinal degeneration
  • retinal detachment
• syndrome expressivity is variable

More general terms

• Stickler syndrome or hereditary progressive arthroophthalmopathy

Additional terms

• collagen 9 alpha-2 (COL9A2)

Database

• OMIM: https://mirror.omim.org/entry/614284