Type II Collagen Disorders Overview

Excerpt

The purpose of this GeneReview is to:

1. 1

   Describe the clinical characteristics of type II collagen disorders;

2. 2

   Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband;

3. 3

   Review the differential diagnosis of type II collagen disorders with a focus on genetic conditions;

4. 4

   Review management of type II collagen disorders;

5. 5

   Inform genetic counseling of family members of an individual with a type II collagen disorder.