Achondroplasia is a bone growth disorder that causes short-limb dwarfism, where the upper ends of one’s legs and arms remain shorter than the lower ends. The average height of patients is below four feet, one inch for females and four feet, four inches for males. Achondroplasia is triggered due to genetic mutations and affects roughly one in 15,000 to 40,000 newborn children. Fortunately, every child continues to lead a healthy and full life after diagnosis.

Symptoms
Children with achondroplasia typically have a normal intelligence level but develop physical symptoms. They will likely have the following signs at birth:

• Short fingers, with the middle and ring pointing away from each other
• A stature much below the average for their age
• An abnormally large forehead
• Tiny legs and arms (typically upper thighs and arms) disproportionate to body height
• An underdeveloped face area between the upper jaw and forehead
• A disproportionately big head as compared to the body

Achondroplasia can lead to the following health issues in infants:

• Reduced muscle tone, resulting in delays in walking and developing other motor skills
• Episodes of apnea involving brief periods of slowed or stopped breathing
• Water in the brain or hydrocephalus
• Spinal stenosis, characterized by the narrowing of the canal within the spinal cord

Further, adults and children with achondroplasia may manifest these symptoms:

• Abnormal spinal cord curvature called lordosis or kyphosis
• Bowed legs
• Inability to bend the elbows
• Repeated ear infections because of narrow ear passages

Causes
During early growth, a significant portion of the fetus’s skeleton comprises cartilage that turns into bones over time. In children with achondroplasia, maximum cartilage remains unconverted because of FGFR3 gene mutations. This gene plays a significant role in yielding a protein crucial for bone growth and maintenance. But the FGFR3 mutations result in excessive protein activity, hampering normal skeleton development.

Treatment and management
Infants born with achondroplasia must be monitored closely for the first two years and, after that, be taken for follow-ups every one to two years to avoid unnecessary complications. Doctors routinely conduct X-rays to monitor the lower extremities and spine position. Spine and brain MRI scans are also performed to spot spinal stenosis development. Further, CT scans are ordered to study the patient’s spine vertebrae.

Treatments may vary depending on the symptoms. Two prominent examples are lumbar decompression and limb correction surgery:

• Lumbar decompression
  Those who show signs of spinal stenosis are recommended decompression. Experts restore nerves that get compressed inside the spinal cord due to its narrowing down. Children may need decompression as and when spinal stenosis develops. The procedure should not be delayed since compression problems can become permanent if left untreated.
• Limb correction surgery
  Those with lower extremity misalignment are suggested surgery for limb correction. Here, surgeons remove the ligaments and bone from the problem areas if they find a dangerously compressed spinal column region or foramen magnum. It helps make space for the spine and brain’s structures.

Since these procedures do not compromise the spinal column and neck’s structural integrity, patients usually do well following the surgery.