GTR Home > Conditions/Phenotypes > Stickler syndrome

Disease characteristics

Excerpted from the GeneReview: Stickler Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.

Available tests

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Clinical features

  • Arachnodactyly
  • Kyphosis
  • Irregular femoral epiphyses
  • Anteverted nares
  • Malar flattening
  • Platyspondyly
  • Cataract
  • Glaucoma
  • Retinal detachment
  • Cleft palate
  • Pierre-Robin sequence
  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Blindness
  • Pectus excavatum
  • Disproportionate tall stature
  • Mitral valve prolapse
  • Scoliosis
  • Spondyloepiphyseal dysplasia
  • Arthropathy
  • Beaking of vertebral bodies
  • Depressed nasal bridge
  • Abnormality of femoral epiphyses
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