Stickler Syndrome Flashcards

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1
Q

What is the inheritance pattern in Stickler Syndrome?

A

AD

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2
Q

What are the clinical diagnostic criteria for Stickler syndrome?

A

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

  1. Ocular:
    a. Characteristic vitreous changes or retinal abnormalities* (lattice degeneration, retinal hole, retinal detachment or retinal tear): 2 pt
  2. Auditory:
    a. High frequency sensorineural hearing loss 2pt
    b. Hypermobile tympanic membranes 1pt
  3. 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
  4. 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
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