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