Stickler syndrome

What is Stickler syndrome?

A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.

Other condition names

  • Hereditary progressive arthroophthalmopathy

Inheritance type

Autosomal dominant, Autosomal recessive

Prevalence

  • Europe: 1-9 in 100,000

Age of Onset

  • Childhood
  • Infancy
  • Neonatal
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