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Stickler syndrome type 1

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

154

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Genes

External Links

  • OMIM

    108300

  • Orphanet

    90653

  • HPO
  • Medgen

    C2020284

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