Achondroplasia A Rare genetic disease

Achondroplasia is a rare genetic disorder of bone growth that prevents the changing of cartilage (specifically in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (lordosis).

Symptoms of Achondroplasia 

• Bones are shortened (thigh, upper arm).
• Short hands and feet.
• Large separation between third and fourth fingers.
• Maximum height of 4-ft.
• Head larger than normal.
• Prominent forehead.
• Flat nose.
• Delayed development in infants (sitting, crawling, walking).

Diagnosis and Tests

Doctors can use ultrasounds to detect Achondroplasia before birth if your baby’s arms and legs appear shorter than average and if their head is large. Most cases of Achondroplasia aren’t confirmed until after birth. 

Other diagnosis and tests are:

• X-ray.
• Physical examination.
• Prenatal examination.
• Genetic testing.
• MRI or CT scan to identify muscle weakness or spinal cord compression.

Treatment of Achondroplasia

There is no specific treatment for Achondroplasia other than managing symptoms. Monitoring height, weight and head circumference is recommended during early diagnosis in infants to track growth progress.

In November 2021, the U.S. The Food and Drug Administration approved Voxzogo (vosoritide) injection to improve growth in children five years of age and older with Achondroplasia and open epiphyses (growth plates), meaning these children still have the potential to grow. This medicine is manufactured by Biomarin. 

Reference: https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-improve-growth-children-most-common-form-dwarfism

https://my.clevelandclinic.org/health/diseases/22183-achondroplasia