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ALL DEFINITIONS

Achondroplasia Dwarfism (ACH)

Definition

Achondroplasia dwarfism (ACH) is a genetic disorder characterized by short stature and disproportionately short limbs due to abnormal bone growth. It is the most common form of short-limbed dwarfism and results from a mutation in the FGFR3 gene, which affects the development of cartilage and its conversion to bone.