First characterised by Stickler in 1965, Stickler syndrome is a progressive hereditary arthro-ophthalmopathy. It is thought to have a prevalence of 1 in 7,500-10,000, making it the commonest heritable disorder of connective tissues.
It can affect several different systems and can present to various specialities at many chronological stages:
It is divided into several subtypes. Types 1-3 are inherited in an autosomal dominant pattern, the other types are autosomal recessive. Across the subtypes within different families various genetic loci have been described.
The phenotypic spectrum is wide, and patients can present prenatally through to later in life and the age at clinical manifestation is very variable.
Phenotypic variability, multi-system involvement and the wide age range at presentation make diagnosis challenging and often delayed. There is also significant clinical overlap with other syndromes that have auditory, ophthalmic and joint involvement. Patients may be seen by multiple healthcare professionals before a diagnosis is made. Diagnostic criteria for patients with type 1 Stickler syndrome are available, though they are primarily used in research settings.
Several studies have demonstrated this diagnostic challenge, including retrospective studies looking for Stickler patients presenting to ophthalmology departments. 11- 51% of patients presenting to cleft palate teams with Pierre-Robin sequence, (micrognathia, retroglossia +/-cleft palate) will ultimately be diagnosed with Stickler syndrome.
Early diagnosis is important in terms of instituting preventative eye treatment and giving genetic counselling to the family. A high index of suspicion is important for patients with constellations of audiological, ophthalmic, orthopaedic and airway problems.