Cartilage Oligomeric Protein Disorders/Pseudoachondroplasia

Wikis > Orthopaedics > Bone and Joint/Skeletal Dysplasia/Osteochrondroplasia > 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.

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