What to Expect at Your First Visit to the Skeletal Dysplasia Center
Every parent hopes their child will grow up to be active and strong. When your child has been diagnosed with a genetic disorder like skeletal dysplasia, your hopes for your child's future may change. Your hope may become that they have a healthy future, no matter how active or strong. Cincinnati Children's Skeletal Dysplasia Clinic involves experts from genetics, or your child could be seen in a combined clinic with orthopaedic and genetic experts for evaluation and care, depending on their individual needs. We are dedicated to supporting your family every step of the way.
The evaluation process you and your child will undergo during your first visit provides our team with the necessary information to make an accurate diagnosis. Those details allow us to recommend the best follow-up care for your child.
Making an Appointment for the Skeletal Dysplasia Center
For more information, to make a referral, or to make an appointment, contact us.
For international patients, please fill out and send this online form. A staff member will contact you within 48 hours.
How to Prepare for Your First Visit to the Skeletal Dysplasia Center
We recommend checking with your insurance provider to confirm coverage for our services before appointment day.
On the Day of Your First Visit to the Skeletal Dysplasia Center
Please let us know if you or your child have any concerns or special needs that will make your visit more comfortable.
Arriving at Your Appointment
Cincinnati Children's Hospital Medical Center is located near downtown Cincinnati. Whether you are coming to our Burnet Campus or one of our neighborhood locations, our visiting section can help guide you.
We recommend you arrive about 30 minutes early. This allows you time to park, find our office, and register for your first visit. If you'll be more than 30 minutes late, please contact us to let us know.
At Your Appointment
Your first appointment will include meetings with our geneticist and genetic counselor within the same visit. If your child is scheduled in the combined orthopaedic and genetics clinic you will also meet with an orthopaedist, all on the same day.
Your evaluation typically begins with questions about your personal medical history and family history. Next, the geneticist, orthopaedist or both will conduct a physical exam.
The team may order and review X-rays, imaging scans, genetic blood tests, and other tests if necessary.
When appropriate, the team will collaborate with other clinical groups, including specialists from:
- Craniofacial team
- Cincinnati Fetal Center
- Physical medicine and rehabilitation
- Spine Center
- STAR Center for Lysosomal Diseases
- Occupational therapy
- Speech therapy
After the evaluation, your team will discuss the best follow-up plan for your child. In some cases, we can offer medical management options that may lessen or eliminate the need for surgery.
After Your First Visit to the Skeletal Dysplasia Center
Here are some helpful links to learn more about specific types of skeletal dysplasia from organizations like the National Institutes of Health (NIH) and March of Dimes:
- Atelosteogenesis type 2
- Campomelic dysplasia
- Cartilage-hair hypoplasia
- Diastrophic dysplasia
- Ellis-van Creveld syndrome
- Kniest dysplasia
- Multiple epiphyseal dysplasia
- Nail-patella syndrome
- Osteogenesis imperfecta
- Spondyloepiphyseal dysplasia
- Thanatophoric dysplasia