GTR Home > Conditions/Phenotypes > Stickler syndrome, type 3

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.

Associated genes

Clinical features

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  • Glossoptosis
  • Enlarged epiphyses
  • Midface retrusion
  • Anteverted nares
  • Premature osteoarthritis
  • Malar flattening
  • Long philtrum
  • Platyspondyly
  • Micrognathia
  • Arthralgia
  • Cleft palate
  • Pierre-Robin sequence
  • Sensorineural hearing impairment
  • Abnormality of the eye
  • Pectus excavatum
  • Pectus carinatum
  • Abnormality of the metacarpal bones
  • Epiphyseal dysplasia
  • Osteoarthritis
  • Cheekbone underdevelopment
  • Exostoses
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