Achondroplasia is one of the most common forms of short stature, or dwarfism, occurring with a frequency of about 1 in 15,000 individuals. The major features of achondroplasia are short limbs disproportionate to the length of the trunk, a lordotic lumbar spine, protuberant abdomen, short and broad hands, and extra skin folds in the arms and legs. The individual's head is enlarged, the forehead is prominent, the nasal bridge is depressed , and the midface is flattened.
Intelligence is almost always normal and the person is able to lead a normal and productive life.
Common medical complications in infancy include middle ear infection, partial airway obstruction, bowed legs, and curvature of the spine. In adulthood, the most common complication is narrowing of the lumbosacral spine with compression of the spinal cord. This is usually treated surgically if diagnosed early. The diagnosis of achondroplasia is based on the presence of short stature and characteristic physical features. The clinical findings should always be confirmed by x-ray of the bones to make a correct diagnosis and to differentiate it from other forms of short stature.