Malignant Dwarfism (Pseudoachondroplasia): Causes, Symptoms & Information

Malignant dwarfism, also known as pseudoachondroplasia (PSACH), is a rare autosomal dominant genetic disorder characterised by short-limbed dwarfism in combination with specific bone, joint, and ocular abnormalities due to pathogenic variants in the COMP gene, located on chromosome 19.