Stickler's syndrome

Last reviewed 01/2018

Stickler's syndrome is the association of a small chin - similar to the Pierre-Robin sequence - and myopia and hypotonia.

It is an autosomal dominant condition with variable penetrance.

There is an association with sensorineural deafness.

Stickler's syndrome is heterogeneous and sometimes linked to the COL2A1 gene.

This syndrome belongs to the Stickler/Wagner group of disorders which may also include vitreoretinal degeneration, cataracts, retinal detachment, premature osteoarthritis, epiphyseal dysplasia, mid-facial hypoplasia, micrognathia and a large philtrum.