The Syndrome

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:

1. Eyes: Short sightedness, cataract and, in the majority of cases, a high risk of retinal detachment. It is the most common cause of retinal detachment in children, and the most common cause of retinal detachment running in families.
2. Hearing: ‘Glue Ear’ and hearing loss which may be either conductive, sensorineural, or commonly a combination of both.
3. Musculoskeletal: Hypermobility and progressive arthritis (any joint may be affected but most commonly hips, knees and lower back).
4. Oro-facial: Cleft or high-arch palate. Affected new-born babies may have small nose and under-developed (recessed) chin, although they usually mature as the child grows.

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.