Stickler Syndrome Flashcards
1
Q
What is the inheritance pattern in Stickler Syndrome?
A
AD
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
- Ocular:
a. Characteristic vitreous changes or retinal abnormalities* (lattice degeneration, retinal hole, retinal detachment or retinal tear): 2 pt - Auditory:
a. High frequency sensorineural hearing loss 2pt
b. Hypermobile tympanic membranes 1pt - 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 - 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