Stickler Syndrome - week 17

Question 1

What is Stickler Syndrome?

Answer 1

genetics collagen mutation disorder

Question 2

Epidemiology of Stickler Syndrome?

Answer 2

Both genders, at childbirth

Question 3

Pathophys of Stickler Syndrome?

Answer 3

Col-2-A1 mutation
autosomal dominant

Question 4

Presentation of Stickler Syndrome?

Answer 4

Flattened facial features
Eye and ear issues
Cleft palate
Hypermobility
Heart issues
Large wrist, knees, ankles
Pierre robin sequence

Question 5

Investigation of Stickler Syndrome?

Answer 5

Genetics
Exam
Bloods
History
Eye and ear tests

Question 6

Mangement of Stickler Syndrome?

Answer 6

symptom management
surgery if needed

Question 7

Prognosis of Stickler Syndrome?

Answer 7

Progressive