Stickler syndrome

Stickler syndrome refers to a group of disorders primarily affecting connective tissue.

Pathology

Several gene mutations have been identified dependent on specific subtypes which include:

Clinical spectrum

Described features include:

Ophthalmologic
  • congenital or early-onset cataract
  • congenital vitreous anomaly, rhegmatogenous retinal detachment
  • myopia greater than -3 diopters
Craniofacial
Audiologic
  • sensorineural or conductive hearing loss
  • hypermobile middle ear systems
Skeletal

Article information

rID: 14645
System: Obstetrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • Stickler's syndrome
  • Stickler arthroophthalmopathy

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