Achondroplasia

“Achondroplasia” is a condition characterized by short stature resulting from skeletal abnormalities. It stands as the most prevalent hereditary short-limb dwarfism, with an incidence rate of approximately 1 in 25,000. This genetic disorder follows an autosomal dominant pattern, meaning it only requires one copy of the defective gene for its manifestation. The root cause lies in a mutation in the “fibroblast receptor-3” (FGFR-3) gene, which hampers the growth of long bones, limiting the average height of affected individuals. According to statistical data, individuals with achondroplasia typically exhibit an average height of around 130cm for men and 124cm for women. Consequently, some people colloquially refer to them as “little people.”

characteristic physical features

The characteristic physical features include a prominent frontal protrusion, a flattened nose bridge, and lordosis of the spine. Additionally, there are distinctive traits such as short and thick lower limbs and fingers (including toes), and and a curved lower back (lordosis) of the abdomen. It’s noteworthy that despite these physical manifestations, the intelligence quotient (IQ) remains unaffected in individuals with achondroplasia.

Causes of achondroplasia

Achondroplasia results from a genetic mutation affecting the receptor responsible for converting cartilage to bone during fetal development.

Symptoms of achondroplasia

1. Shortened bones in the thigh and upper arm.
2. Short hands and feet.
3. Large separation between the third and fourth fingers.
4. Maximum height of around 4 feet.
5. Enlarged head.
6. Prominent forehead.
7. Flat nose.
8. Delayed development in infants, including sitting, crawling, and walking.

Long-Term Effects on the Body:

1. Back and leg pain.
2. Breathing problems (apnea).
3. Obesity.
4. Recurring ear infections.
5. Curved spine.
6. Bowed legs.
7. Hydrocephalus (excess fluid on the brain).
8. Obstructive sleep apnea.

Diagnosis and Test

1. Ultrasound during pregnancy to detect limb shortening and an enlarged head.
2. X-ray.
3. Physical examination.
4. Genetic testing (FGFR3 gene).
5. MRI or CT scan to identify muscle weakness or spinal cord compression.

Management and Treatment

1. No specific cure for achondroplasia; treatment focuses on symptom management.
2. Monitoring height, weight, and head circumference for early diagnosis in infants.
3. Weight management and healthy eating habits to prevent obesity.
4. Surgery for complications such as brain fluid pressure or craniocervical junction compression.
5. Growth hormones may be considered.
6. Continuous positive airway pressure (CPAP) for apnea.
7. Ear tubes or antibiotics for preventing ear infections.
8. Support for socialization.

Prevention:

Preimplantation genetic testing may decrease the chance of passing on achondroplasia if a parent has the condition.

Prognosis of achondroplasia

Most individuals with achondroplasia can live a full and healthy life with a normal life span and intelligence. Complications can be managed to prevent serious health problems.

Living With achondroplasia

1. Eliminate physical challenges to promote independence.
2. Provide emotional and educational support to prevent bullying.
3. Engage with groups and organizations in the dwarfism community.

When to Contact Healthcare Provider:

1. Regular checkups during infancy and childhood.
2. If the child isn’t meeting height benchmarks or shows developmental delays.
3. For breathing problems, frequent ear infections, back and leg pain, or obesity risks.

This information is not a substitute for professional medical advice, diagnosis, or treatment. Always consult with your healthcare provider for guidance on your specific situation.