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