For those of you that didn’t know, both our new daughters have Achondroplasia Dwarfism. Below is some information I put together that helps explain what it is.
Achondroplasia is a genetic disorder that causes birth defects and results in abnormally short stature. A child with dwarfism is born 1 per 10,000 births. Although there are over 200 types of dwarfism, Achondroplasia is the most common form.
The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs.
The average man with
achondroplasia grows to only 4 ft 3.5 inches and the average woman grows to 4
ft. Characteristic features of
achondroplasia include an average-size trunk, short arms and legs with
particularly short upper arms and thighs, limited range of motion at the
elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers
are typically short and the ring finger and middle finger may diverge, giving
the hand a three-pronged (trident) appearance. People with achondroplasia are
generally of normal intelligence.
There are an estimated 30,000 people in the US with dwarfism. But there are about to be two more! :-)
Such terms as dwarf,
little person, LP, and person of short stature are all acceptable, but most
people would rather be referred to by their name than by a label. For people without dwarfism, the correct terminology is
average-height rather than ‘normal’.
