Stickler Syndrome is a genetic condition affecting connective tissue (essentially collagen), with variable symptoms. There are now known to be at least 11 distinct sub-groups of Stickler Syndrome, but the effect in each are typically in four main areas:
Although many other genetic conditions are rare, the Stickler Syndromes are relatively common, but frequently unrecognised or undiagnosed. Around 50% of those with a diagnosis are being treated for a single symptom and the ‘dots haven’t yet been joined up’, so their diagnosis is likely to be incomplete with the potential for other effects or risks (particularly retinal detachment) to be neglected.
Diagnosis shouldn’t be a ‘lottery’, and where these symptoms start to build a picture it is important to get a specialist referral.