Etymed
chondrodysplasia
Definition
A developmental disorder characterized by abnormal cartilage formation and growth, leading to skeletal malformations and dwarfism
Clinical context
A 2-year-old boy presents with short stature, disproportionately short limbs, and a large head size. Radiographic imaging reveals abnormal cartilage ossification patterns and distinctive skeletal deformities. His parents are of average height with no family history of similar conditions. The patient exhibits delayed motor milestones and joint stiffness affecting his mobility.
Mnemonic
CHONDRO - Cartilage formation disorder causing dwarfism with short limbs and abnormal bone development