Cartilage Oligomeric Protein Disorders/Pseudoachondroplasia

Cartilage Oligomeric Protein Disorders/Pseudoachondroplasia:
One of more common skeletal dysplasia’s. Not clinically apparent at birth (may see platyspondyly on x-ray) – growth retardation is seen around 1 – 3 years.
Autosomal dominant, but most are new mutations.
Characterised by short limbed dwarfism and ligamentous laxity

Histologically – dilated rough endoplasmic reticulum; accumulation of abnormal cartilage oligomeric matrix protein (COMP)

Aetiology – mutation in gene coding for COMP

Hands and feet are short and broad. Facies are normal.

We have not yet got to this page. We will eventually. Please contact us if you have something to contribute to it or sign up for our newsletter or like us on Facebook and Instagram or follow us on Twitter.

Page last updated: @ 9:20 pm