Achondroplasia
What is Achondroplasia?
Achondroplasia is a genetic condition that affects bone growth, leading to shorter stature and differences in limb proportions.
While achondroplasia is a lifelong condition, children with this condition can thrive with the right care and a supportive environment. From understanding the diagnosis to planning for specialized care, our team is here to help you navigate every step with compassion and expertise.
Signs & Symptoms
The most common characteristics associated with achondroplasia include:
- Short arms and legs, especially the upper arms and thighs
- Shorter than average trunk length
- Prominent forehead
- Protruding jaw
- Flattened mid-face (malar area)
- Narrow chest
- Abnormal side-to-side and front-to-back spinal curvature
- Curved lower back (lordosis)
- Spinal stenosis, which can cause pain in the lower back, legs, and feet
- Increased risk for respiratory problems due to the narrow chest
- Otitis media, which is an accumulation of fluid in the middle ear
- Joint stiffness
- Limited range of motion in the elbows, hips, and knees
- Increased risk for obstructed airways during sleep (sleep apnea)
- Excessive sweating
Risk Factors
The primary risk factor for achondroplasia is a family history of the disorder. If one parent has the condition, there is an increased chance that any children they have could also inherit it.
Other factors that can increase the likelihood of a child being born with achondroplasia include advanced maternal age and being born small for gestational age.
In some cases, achondroplasia can occur without a family history. When this happens, it is usually due to a spontaneous change in the FGFR3 gene, which plays a role in bone growth and development. The exact cause of this change is not always clear.
Talk to your health care provider for more information or if you are concerned about your pregnancy.
Treatment for Achondroplasia
Treatment for achondroplasia is tailored to each individual, depending on their specific symptoms. Sometimes, no treatment may be necessary as the disorder is usually not life-threatening.
Physical therapy can help strengthen muscles and increase mobility, while medications may be used to reduce pain or other symptoms. In addition, genetic counseling is recommended for affected families to understand the risks and provide emotional support.
- Newborns should be physically evaluated yearly
- X-rays, MRI scans, and CT scans may be used to monitor the spine and lower extremities.
- Treatment for spinal stenosis might be needed
- Surgery can be done to correct the misalignment of the limbs
- Surgical decompression is most successful when performed quickly
Genetic Counseling
For families with a history of achondroplasia, genetic counseling is an important step in understanding the risk of passing the condition on to future children. A genetic counselor can help explain the likelihood of inheritance, the genetic factors involved, and the available testing options.
In addition to helping with family planning, genetic counseling provides emotional and psychological support for individuals living with achondroplasia and their families. This support can help families feel more empowered and informed as they navigate the journey ahead.
CHRISTUS Children's - The Fetal Care Center
When an anomaly is detected, the Fetal Care Center at CHRISTUS Children's in San Antonio connects you and your family with pediatric specialists, providing expert care and support no matter where you plan to deliver your baby.