English Version
D. Porter

Stickler syndrome

Stickler syndrome

Schlüsselwörter ICD 10: Q87.5; Marshall-Stickler, Wagner-Stickler hereditary arthro-ophthalmopathy
Keywords ICD 10: Q87.5; Marshall-Stickler, Wagner-Stickler hereditary arthro-ophthalmopathy
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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:

  1. Airway and orofacial structures
    1. characteristic face (malar hypoplasia, flat nasal bridge, micro/retrognathia)
    2. acute upper airway obstruction
    3. simple posterior cleft palate
    4. manifests as part of Pierre Robin Sequence (PRS)
  2. Auditory
    1. hearing loss, predominantly sensorineural but also conductive or mixed.
  3. Ophthalmic
    1. high refractive error (myopia).
    2. cataracts
    3. vitreous abnormalities
    4. progressive choroidoretinopathy with exudative and rhegmatogenous detachment leading potentially to blindness.
  4. Skeletal
    1. Spine: Scoliosis, endplate changes, Schmorl nodes, platyspondylia, Scheuermann like kyphosis, ossification of anterior longitudinal ligament, Forestier disease, bamboo spine. High incidence (85%) of 85% chronic back pain
    2. Femoral: Protrusio acetabuli, coxa valga, femoral head failure or slipped upper femoral epiphyses (SUFE) and hip osteoarthritis (OA), usually in the third and fourth decade.
    3. Other: Patella instability

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.

  • Type 1 (COL2A1)
  • Type 2 (COL11A1)
  • Type 3 (COL11A2) non-ocular
  • Others (COL9A1/COL9A2/COL9A3/LOXL3)

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.

Rare associations/presentations:

  • One fatality associated with the migration of an indwelling infra-orbital catheter
    presumed secondary to collagenopathy.
  • Mitral valve disease: two conflicting studies outlined later and two case reports
  • Hypertrophic cardiomyopathy
  • Brown Sequard syndrome with cervical spondylosis and myelopathy
  • Cervical Spine Dysmorphism
  • Peripheral neuropathy
  • Immunoglobulin deficiency
  • Von Willebrand disease
  • Giant cell granuloma
  • Stapes ankyloses

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