Achondroplasia is a bone growth disorder that results in dwarfism. Dwarfism is a condition in which a person can only grow to a certain extent. There are two forms: disproportionate dwarfism, in which the sizes of different body parts vary due to improper development of bones; or proportionate dwarfism, in which the overall growth of a person is stunted due to a growth hormone deficiency or medical condition, but the body parts grow at the same rate, so the body is proportional. Achondroplasia is a common form of disproportionate dwarfism caused by a genetic mutation (80% of the time) in one parent’s egg or sperm cell before conception occurs, or it is inherited from a parent (50% of the time) who already has achondroplasia. An ultrasound can detect whether a fetus has bone problems in the uterus, and an amniocentesis (a test that checks the amniotic fluid surrounding the baby) can determine the exact genetic conditions of  the fetus. There are no preventative measures or “cures, ” but intellectual abilities and life expectancy are typically unaffected in people with achondroplasia.

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Characteristics

-Dwarfism (typically 4 feet 6 inches or less)

-Elbows have limited mobility

-Macrocephaly (head is larger than average in size)

-Depressed nasal bridge

-Swayed back

-Short arms and legs (often developing bowed legs)

-Small fingers that appear three-pronged in appearance

-Broad, flat feet

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Associated Health Problems

-Rib abnormalities

-Extra bones

-Deafness

-Weak muscles

-Obesity

-Obstructive sleep apnea

-Ear infections

-Spinal cord compression (Can result in difficulty breathing)

-Build up of fluid in the brain

-Spinal stenosis (Resulting in the narrowing of the spine, causing lower back pain, urination issues, leg pain/tingling)

Who Does It Affect?

- Achondroplasia equally affects males and females

- Achondroplasia affects bout 15,000-35,000 births 

Instructional Strategies