Stickler syndrome/COL11A2 mutation associated (type 3)

Introduction

non-ocular form of Stickler syndrome

Genetics

• autosomal dominant
• associated with defects in COL11A2

Clinical manifestations

• ocular symptoms are absent in Stickler syndrome type 3
• classical Stickler syndrome 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
    • juvenile joint laxity is followed by early signs of arthrosis
  • sensorineural deafness
    • 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 11 alpha-2 (COL11A2)

Database

• OMIM: https://mirror.omim.org/entry/184840