Campomelic Dysplasia

Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity and prevent future complications. If your child’s been diagnosed with campomelic dysplasia (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.

Learn More About Campomelic Dysplasia

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Nemours Children's Hospital, Orlando

6535 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 campomelic dysplasia (CMD), a rare form of skeletal dysplasia with developmental differences that include bent (bowing) limbs, short legs and other problems with bone development in the shoulders, neck and feet.

At Nemours, our goal is to help children with all forms of skeletal dysplasia, including campomelic 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 Campomelic Dysplasia in Central Florida

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

Causes of Campomelic Dysplasia

Campomelic dysplasia is caused by a mutation (or change) in a gene called SOX-9 involved in building many body systems, including skeletal, reproductive and respiratory systems. A child with campomelic dysplasia may have moderate to severe problems depending on the specific change in the SOX-9 gene.

Campomelic Dysplasia Symptoms

Campomelic dysplasia is characterized by bowing of the long bones in the legs and distinctive facial features (flat face, prominent forehead). Other characteristics may include skin dimpling over the curved bone, short legs, dislocated hips, one less pair of ribs, irregular development of the shoulder blades and neck bones and external genitalia (that isn’t clearly male or female).

Children with campomelic dysplasia can also have breathing problems caused by a defect in the cartilage that supports the upper respiratory tract, spinal cord compression, spinal curvature (scoliosis), hearing problems and sometimes congenital heart defects. Your Nemours team of specialists will look for and assist in managing these problems as your child grows.

Learn More About Campomelic Dysplasia and Related Children’s Health Topics From Nemours’ »

Evaluating Campomelic Dysplasia in Infants and Children

Your child’s evaluation for campomelic dysplasia 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. Complications with the spine, respiratory and genitourinary (reproductive organs and urinary tract) systems are possible, so we’ll bring in additional specialists (such as a pediatric neurologist, pulmonologist and/or urologist) as needed.

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 campomelic dysplasia, 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 campomelic dysplasia 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 Campomelic Dysplasia

Skeletal dysplasias, including campomelic dysplasia, 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 campomelic dysplasia, in some cases, surgical procedures and therapies can improve mobility 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 »

Your Child’s Coordinated Campomelic Dysplasia Care

The needs of a child with campomelic dysplasia 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 »
Learn More About How We Treat Genetic Disorders »

Coping & 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 »