Stickler syndrome

Stickler syndrome (hereditary progressive arthro-ophthalmopathy)
Stickler syndrome is inherited in an autosomal dominant pattern.
SpecialtyMedical genetics Edit this on Wikidata

Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen.[1] Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar B. Stickler in 1965.[1]

  1. ^ a b Stickler G. B.; Belau P. G.; Farrell F. J.; Jones J. F.; Pugh D. G.; Steinberg A. G.; Ward L. E. (1965). "Hereditary Progressive Arthro-Ophthalmopathy". Mayo Clin Proc. 40: 433–55. PMID 14299791.