Type II Collagen Disorders Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2019 Apr 25.

¹ Department of Clinical Genetics Pediatrics and Adolescent Medicine Centre for Rare Diseases Aarhus University Hospital Aarhus, Denmark
² Victorian Clinical Genetics Service Murdoch Children's Research Institute University of Melbourne, Parkville Melbourne, Australia

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding type II collagen disorders and their management.

The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of type II collagen disorders.

Goal 2: Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband.

Goal 3: Inform genetic counseling of family members of an individual with a type II collagen disorder.

Goal 4: Review management of type II collagen disorders.