Clinical and molecular genetics of Stickler syndrome

  • Snead M
  • Yates J
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Stickler syndrome is an autosomal domi-nant disorder with characteristic ophthal-mological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathogno-monic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common oph-thalmological features include paravascu-lar pigmented lattice degeneration and cataracts. Non-ocular features show great variation in expression. Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and microg-nathia. These features can become less pronounced with age. Midline clefting, if present, ranges in severity from a cleft of the soft palate to Pierre-Robin sequence. There is joint hypermobility which de-clines with age. Osteoarthritis develops typically in the third or fourth decade. Mild spondyloepiphyseal dysplasia is often apparent radiologically. Sen-sorineural deafness with high tone loss may be asymptomatic or mild. Occasional findings include slender extremities and long fingers. Stature and intellect are usu-ally normal. Mitral valve prolapse was reported to be a common finding in one series but not in our experience. The majority of families with Stickler syn-drome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. The remainder with the type 2 vitreous phenotype have muta-tions in COL11A1 or other loci yet to be identified. Mutations in COL11A2 can give rise to a syndrome with the systemic features of Stickler syndrome but no oph-thalmological abnormality.

Author-supplied keywords

  • Stickler syndrome
  • collagen
  • vitreous

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  • Martin P Snead

  • John R W Yates

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