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Incidence

Prevalence is 1-5 / 10 000. The syndrome generally appears to be transmitted in an autosomal dominant manner and is genetically heterogeneous. Stickler syndrome type 1 is caused by mutations in the COL2A1 gene (12q13.11-q13.2), Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21) and Stickler syndrome type 3 is caused by mutations in the COL11A2 gene (6p21.3). An autosomal recessive form of Stickler syndrome associated with mutations in the COL9A1 (6q12-q14) gene has also been reported in a Moroccan family.

Clinical Characteristics

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. Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

Diagnosis is made on the basis of the clinical picture and can be confirmed by molecular analysis. The diagnosis of Stickler syndrome is clinically based. At present, no consensus minimal clinical diagnostic criteria exist. Mutations affecting one of five genes (COL2A1, COL9A1, COL9A2, COL11A1, and COL11A2) have been associated with Stickler syndrome; because a few families with features of Stickler syndrome are not linked to any of these four loci, mutations in other genes may also cause the disorder. Prenatal diagnosis is feasible for families in which the disease-causing mutation has been identified.