Stickler Syndrome

Question 1

What is the inheritance pattern in Stickler Syndrome?

Answer 1

AD

Question 2

What are the clinical diagnostic criteria for Stickler syndrome?

Answer 2

Consider if individuals with >/= 5 points:
Abnormalities (2 pts maximum per category):
1. Orofacial:
a. Cleft palate* (open cleft, submucous cleft or bifid uvula) 2pt
b. Characteristic facial features (malar hypoplasia, broad or flat nasal bridge, and micro/retrognathia) 1 pt

2. Ocular:
   a. Characteristic vitreous changes or retinal abnormalities* (lattice degeneration, retinal hole, retinal detachment or retinal tear): 2 pt
3. Auditory:
   a. High frequency sensorineural hearing loss 2pt
   b. Hypermobile tympanic membranes 1pt
4. Skeletal:
   a. Femoral head failure (SCFE or Legg-Perthes-like disease): 1 pt
   b. Radiographically demonstrated osteoarthritis <4oyo: 1pt
   c. Scoliosis, spondylolisthesis, or Scheuermann-like kyphotic deformity: 1 pt
5. Family history/molecular data:
   a. Independently affected first degree relative in a pattern consistent with AD inheritance
   b. presence of a COL2A1, COL11A1, or COL11A2 pathogenic variant associated with Stickler syndrome 1pt