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Table 7 Proposed diagnostic criteria for Stickler Syndrome type I (adapted from Robin NH et al. [52])

From: When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children

Stickler syndrome should be considered in individuals with ≥5 points At least one finding should be a major (2-point) manifestation.
Abnormalities (2-pt maximum per category)
 • Orofacial
   Cleft palate* (open cleft, submucous cleft, or bifid uvula): 2 points
   Characteristic facial features (malar hypoplasia, broad or flat nasal bridge, and micro/retrognathia): 1 point
 • Ocular. Characteristic vitreous changes or retinal abnormalities* (lattice degeneration, retinal hole, retinal detachment or retinal tear): 2 points
 • Auditory
   High-frequency sensorineural hearing loss*: 2 points
   ▪ Age < 20 years: threshold ≥ 20 dB at 4–8 Hz
   ▪ Age 20–40 years: threshold ≥ 30 dB at 4–8 Hz
   ▪ Age > 40 years: threshold ≥ 40 dB at 4–8 Hz
   Hypermobile tympanic membranes: 1 point
 • Skeletal
   Femoral head failure (slipped epiphysis or Legg-Perthes-like disease): 1 point
   Radiographically demonstrated osteoarthritis before age 40: 1 point
   Scoliosis, spondylolisthesis, or Scheuermann-like kyphotic deformity: 1 point
Family history/molecular data**
 • Independently affected first-degree relative in a pattern consistent with autosomal dominant inheritance or presence of a COL2A1, COL11A1, or COL11A2 pathogenic variant associated with Stickler syndrome**: 1 point
 • *Denotes major manifestation ** Does not account for families with autosomal recessive Stickler syndrome