Achondroplasia is a bone disorder caused by a mutation in the FGFR3 gene that impairs bone growth in the limbs. Our team of pediatric specialists can help you manage a variety of orthopaedic issues that may arise in children with achondroplasia.
Achondroplasia Treatment: Why Choose Johns Hopkins
- As part of the Greenberg Center for Skeletal Dysplasia, we can help you get well-rounded care for your child with achondroplasia, from newborn screening and genetic testing to guided growth surgery and brainstem decompression, as we work closely with our colleagues in neurosurgery and genetics.
- Our specialists are experienced in treating children with achondroplasia from birth to adulthood, focusing on optimal treatments for their age and skeletal maturity.
- Like you, we want your child to be as active as possible, so we make use of minimally invasive techniques when possible and carefully plan the timing of surgeries to allow your child to enjoy their childhood.
How We Can Help
The majority of orthopaedic issues related to achondroplasia are caused by slowed growth in the long bones of the body (the bones in the arms and legs). Our team can help you address these and many other health concerns:
- Spinal deformities, such as an excessive inward curve in the lower back (lordosis), a hump in the mid-back (kyphosis) and sideways curvature (scoliosis)
- Leg pain or weakness caused by pinching of the spinal cord or nerve roots
- Bowed legs
Achondroplasia Treatment Options
While achondroplasia itself can’t be reversed, certain aspects of the condition can be corrected with bracing, orthotics, physical therapy or surgery. Our treatment goal with every child is to help him or her minimize pain and discomfort, improve confidence and avoid complications as they get older.
Our pediatric orthopaedic surgeons may recommend one or several of these procedures depending on your child’s symptoms:
- Spinal fusion to stabilize the spine
- Spinal decompression to free up the compressed spinal cord or nerve roots
- Guided-growth surgery and/or osteotomy (cutting bone) to correct uneven growth or abnormal rotation of the bones
- Limb-lengthening surgery to add length in the legs or arms
Our Achondroplasia Experts
Mary Teresa (Tresie) Yost, Nurse Practitioner