Stickler Syndrome (or hereditary arthro-ophthalmopathy) is a connective tissue disorder affecting type II and XI collagen that is inherited as an autosomal dominant trait. Rose et al proposed a scoring system to aid in the diagnosis of the syndrome. The authors are from the Johns Hopkins University.
Diagnostic features:
(1) orofacial (maximum 2 point)
(2) ocular (maximum 2 point)
(3) auditory (maximum 2 point)
(4) skeletal (maximum 2 point)
(5) family history or molecular data (maximum 1 point)
|
Feature
|
Finding
|
Points
|
|
orofacial
|
cleft palate
|
2
|
|
|
characteristic facies
|
1
|
|
|
neither
|
0
|
|
ocular
|
characteristic vitreous degeneration
|
2
|
|
|
retinal detachment
|
2
|
|
|
neither
|
0
|
|
auditory
|
high frequency sensorineural hearing loss
|
2
|
|
|
hypermobile tympanic membranes
|
1
|
|
|
neither
|
0
|
|
family history or molecular data
|
independently affected first degree relative in a pattern consistent with an autosomal dominant inheritance
|
1
|
|
|
presence of a COL2A1, COL11A1, or COL11A2 mutation associated with Stickler syndrome
|
1
|
|
|
neither
|
0
|
|
Skeletal Feature
|
Finding
|
Points
|
|
femoral head failure
|
present
|
1
|
|
|
absent
|
0
|
|
radiographically demonstrated osteoarthritis
|
<= 40 years of age
|
1
|
|
|
> 40 years of age
|
0
|
|
|
none
|
0
|
|
spinal deformity
|
scoliosis, spondylolisthesis or Scheuermann-like kyphotic deformity
|
1
|
|
|
none of these
|
0
|
where:
• Characteristic facies: midface hypoplasia, Pierre-Robin features
• Ocular findings: severe myopia, vitreous degeneration, spontaneous retinal detachment, chorioretinal degeneration, open angle glaucoma, and presenile cataracts.
• Scheuermann kyphosis: vertebral osteochondrosis
diagnostic score =
= SUM(points for first 4 features) + MIN(2,SUM(skeletal features))
Interpretation:
• minimum score: 0
• maximum score: 9
• The higher the score, the more likely the diagnosis.
Diagnostic criteria for Stickler Syndrome:
(1) one or more of the following
(a) cleft palate
(b) ocular abnormalities (I assume this could be either finding since both are rated 2 points)
(c) high frequency sensorineural hearing loss
(2) diagnostic score >= 5
NOTE: In the abstract of Rose et al, diagnosis was based on a score >= 5. The requirement for one of the characteristic findings is from Wilkin et al.
Performance of the diagnostic score:
• Sensitivity ranged from 97-100% in a small number of affected persons (100% in those with known mutations).
• Specificity was 100% in a cohort of 18 patients in whom the diagnosis had been previously excluded.
