Causes And Types Of Dwarfism

Achondroplasia

This form of dwarfism known as ACH is a genetic disorder and the most common type of short-limbed dwarfism. The word achondroplasia means 'without cartilage formation,' and it refers to the bone growth that prevents cartilage from changing, especially in the long arm and leg bones. Individuals who have this condition have a torso of normal length but short arms and legs, a prominent forehead, specific facial features, and a large head or macrocephaly.

Achondroplasia can be hereditary, but a spontaneous genetic mutation usually causes it. Most patients with ACH are born to parents of normal height. Someone who has achondroplasia has a fifty percent chance with each pregnancy of having a child with ACH with a partner who does not have the condition. When both parents have achondroplasia, the possibility of having a child with the condition is fifty percent, and the chance of having a child of normal stature is twenty-five percent. When a child inherits the mutation from both parents, the condition is fatal. The disorder affects about one in every fifteen thousand to forty thousand births.

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