Services & Specialties
Skeletal Dysplasia Center

Specialized Care for Osteogenesis Imperfecta, Achondroplasia and Other Skeletal Dysplasias

When your child is diagnosed with a skeletal dysplasia, you may feel confused or overwhelmed. You want clear answers and a plan. Our team helps you understand your child’s condition and what comes next.

We care for children and adults with osteogenesis imperfecta, achondroplasia and hypochondroplasia, hypophosphatasia, and other skeletal dysplasias. We focus on medical management, genetic testing and long-term support. Each visit is centered on your child’s needs and your family’s goals.

Why Choose the Skeletal Dysplasia Center at Cincinnati Children's?

  • Whole-child care that looks at growth, development and overall health, not just bones
  • Positive patient experience with families who actively recommend our program
  • Clinical research access with opportunities to join drug trials and natural history studies when eligible
  • Expert second opinions to help you better understand a diagnosis and treatment options

Skeletal Dysplasia Expertise and Coordinated Care

Trusted Genetic Specialists

Our genetic providers diagnose and manage complex bone conditions. We use detailed exams and genetic testing to confirm a clear diagnosis. About 150 patients receive care in our center each year.

We support families with recurrence risk counseling and family planning guidance. This helps parents make informed decisions for the future.

Access to New and Emerging Treatments

Our team participates in clinical trials for hypophosphatasia, osteogenesis imperfecta, and both achondroplasia and hypochondroplasia. These include medication trials and long-term research studies.

If a drug becomes FDA approved, we are prepared to prescribe it quickly because of our direct trial experience. This allows faster access to new therapies when available.

Coordinated Care Across Specialties

Skeletal dysplasia can affect many parts of the body. We partner closely with orthopaedics, neurosurgery, pulmonary medicine, ENT, dental specialists and physical therapy.

We work together to create one clear plan. We also communicate with your child’s local doctors to support care close to home when possible.

Expert Second Opinions and Clear Guidance

Many families come to our center after prior evaluations when questions still remain. Our specialists review previous records and imaging, confirm the diagnosis, and explain what it means for your child now and in the future. About 30% of new patients are referred to us for additional expertise or diagnostic clarification. Before you leave, you will understand the condition, treatment options, and the next steps in care.

Families visit us from both the local community and across the Midwest because skeletal dysplasia often requires highly specialized care. Our team coordinates testing and appointments in advance so visits remain focused and productive. Each appointment is designed to provide clear guidance and confidence in your child’s long-term care plan.