Expertise in rare syndromes

Because they are so rare, skeletal dysplasia syndromes can be difficult to diagnose by physicians who are unfamiliar with them. At the Skeletal Dysplasia Clinic, we frequently first meet with children because a doctor or parent suspects something is wrong with the child’s bones — for example, because of multiple fractures or short stature — but they don’t know the cause.

With our expertise in recognizing and treating skeletal dysplasia syndromes, we are able to provide a diagnosis for these rare disorders so your child can begin receiving appropriate treatment.

Specialized, coordinated team care

Because of the syndrome’s complicated medical concerns, it is critical that people with skeletal dysplasia receive ongoing, coordinated management by specialists in the field.

Our multidisciplinary team include clinicians from genetics, orthopedic surgery, neurosurgery and radiology who have experience treating children with rare skeletal disorders, including achondroplasia and osteogenesis imperfecta. For your convenience, we coordinate the care of our patients at a single hospital visit.

Genetic counseling for skeletal dysplasia

We now know the genetic basis of many of these conditions, which allows us to provide a precise molecular diagnosis. A more precise molecular diagnosis also gives you the opportunity to speak with a geneticist for genetic counseling for a more complete understanding of your child’s condition.