Achondroplasia

Nemours is world-renowned for the diagnosis and treatment of achondroplasia and other skeletal dysplasias. We strive to maximize children’s mobility, correct deformity and prevent future complications. If your child has been diagnosed with achondroplasia (a type of skeletal dysplasia), we’re here to ease your concerns, answer your questions and give your child the best possible chance for a healthy future.

Nemours Children's Hospital, Orlando


13535 Nemours Parkway
Orlando, FL 32827
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For Appointments: (407) 650-7715
Hours: Monday–Friday, 8 a.m. to 5 p.m.

 
What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
New Patients

Bring these forms for your first appointment:

Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
 
Forms & Resources
New Patient Forms
Returning Patient Forms
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families

Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with achondroplasia (the most common type of skeletal dysplasia). Achondroplasia is a genetic condition with developmental features that include short limbs causing short stature (dwarfism) and differences in the structure of the pelvis, backbone and sacrum (where the pelvis, backbone and tailbone connect).

At Nemours, our goal is to help children with all forms of skeletal dysplasia achieve the highest level of mobility, function and health possible. Here, you’ll find doctors, surgeons, counselors, nurses and staff who are uniquely qualified and share a strong commitment to your child’s long-term health and wellness. As a team, we work together to manage the physical, emotional and social complexities that come with this condition, and to provide maximum ability and freedom as your child grows and develops.

Learn More About Skeletal Dysplasia Care at Nemours Children’s Hospital »

Expert Care for Children With Achondroplasia in Central Florida

Achondroplasia is a rare condition and only a handful of hospitals in the country treat children with this condition. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including achondroplasia, from both a genetic and orthopedic perspective.

 
Causes of Achondroplasia

Achondroplasia is a form of skeletal dysplasia that is caused by a genetic mutation (or change) that is passed from a parent to child. This mutation occurs in the fibroblast growth factor 3 gene (FGFR3), which is responsible for bone growth. The spontaneous (sudden) genetic change typically arises during sperm formation in the father.

 
Achondroplasia Symptoms

Achondroplasia may not be identified until the toddler years when bones begin to bow. In addition to shorted limbs, children with achondroplasia often have limited elbow extension, a larger than average head for body size and changes in the vertebra (the stacked bones that make up the backbone) that can be seen on an X-ray.

Children with achondroplasia may also have narrowing of the spinal canal (spinal stenosis) or sideways curvature of the spine (scoliosis). Your Nemours team of specialists will look for and assist in managing these problems.

Learn More About Achondroplasia and Related Children’s Health Topics From Nemours’ KidsHealth.org »

Evaluating Achondroplasia in Infants and Children

Your child’s evaluation for achondroplasia at Nemours Children’s Hospital will begin with a diagnostic appointment with one of our pediatric orthopedic experts in skeletal dysplasias. We can often make a diagnosis in our initial evaluation, but, depending on your child’s condition, we may recommend additional diagnostic testing and further evaluation with a geneticist.

 
Your Child’s First Visit: What to Expect

Because of the complexity involved in making a firm diagnosis in some types of skeletal dysplasias, including achondroplasia, a great deal of information is collected at the initial visit, so it may take an hour or two to complete. During your visit, we’ll:

  • obtain your child’s medical history and a three-generation family medical history
  • review your child’s medical records and previously obtained X-rays
  • perform a physical examination, including detailed measurements of your child’s joint motions (how much each joint can move) and the lengths of arm and leg bones
 
If Your Child Needs Additional Diagnostic Tests

At Nemours Children’s Hospital we provide advanced testing to help us diagnose achondroplasia and develop an effective treatment plan based on your child’s specific needs. Tests may include:

  • imaging: X-ray, ultrasound, CT (computed tomography) and MRI (magnetic resonance imaging)
  • biochemical tests: determine levels of critical proteins in a sample of blood, urine or other fluid or tissue
  • molecular tests: determine a child’s genetic makeup and confirm the clinical diagnosis

Treating Achondroplasia

Skeletal dysplasias, including achondroplasia, are often associated with complex medical and surgical needs. At Nemours, we have an experienced team of health professionals and well-equipped facilities to provide convenient, comprehensive multispecialty care for your child and family.

While there is no cure or simple treatment for achondroplasia, in some cases, surgical procedures or human growth hormone (HGH) therapy may increase limb length and relieve (and prevent) related complications. We’ll work with your family to help you understand the available treatment options.

Learn More About Limb Lengthening and Reconstruction at Nemours Children’s Hospital »

Your Child’s Coordinated Achondroplasia Care

The needs of a child with achondroplasia change over time, that’s why your child’s care team is here to anticipate and correct problems along the way. For your convenience, we typically schedule follow-up genetics appointments at six-month or one-year intervals, depending on your child’s condition and needs. Orthopedics appointments are scheduled based on the most recent evaluation.

We understand that arranging travel and managing multiple appointments can be difficult, so we’ll work with you to schedule appointments all on one day. What’s more, some of the very same pediatric specialists your child sees at Nemours Children’s Hospital also provide convenient appointments at our specialty care location in downtown Orlando.

Learn More About Orthopedic Care at Nemours Children’s Hospital »
Learn More About How We Treat Genetic Disorders at Nemours Children’s Hospital »

 
Coping and Support For the Entire Family

To help make the experience as comfortable as possible, we also provide emotional and psychosocial support and many other services for your child and family, including:

Learn More About the Support Services and Amenities at Nemours Children’s Hospital »