Achondroplasia

Definition

Causes

Achondroplasia is an inherited disorder of bone growth. It is one of the group of disorders that are collectively called chondrodystrophies or osteochondrodysplasias.

The disorder causes a type of dwarfism that is recognized by its characteristic normal to large-sized head, shortened arms and legs (especially the upper arm and thigh), a normal-sized trunk, and waddling gait. Achondroplasia is the most common type of dwarfism.

Achondroplasia can be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, he or she will have the disorder.

However, the majority of cases, approximately 80%, appear as spontaneous mutations. This means that two patients without achondroplasia may give birth to a baby with achondroplasia. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.