Understanding Skeletal Dysplasias: Specialized Care, Research and Hope for Families

A New Era of Targeted Therapies

Historically, care for skeletal dysplasias focused largely on supportive care, orthopedic management and symptom control. While those remain essential, the field is now shifting toward precision medicine and targeted therapies.

In achondroplasia, for example, newer treatments such as vosoritide are changing what is possible for children. Vosoritide is a targeted therapy for achondroplasia that helps promote bone growth by addressing the underlying genetic pathway that affects skeletal development.

These therapies are not simply about height. Research has shown they may also improve mobility, spinal alignment, body proportionality, physical function and overall quality of life. Early treatment may also help reduce certain complications associated with achondroplasia.

This is why research and clinical trials are so important.

At Shriners Hospitals for Children Canada, we are building a leading clinical research program and bringing skeletal dysplasia trials directly to our patients - giving families access to innovative therapies and emerging treatments closer to home.

True excellence requires more than exceptional care. It requires research that drives the next generation of treatments.

Why Multidisciplinary Care Is Essential

Skeletal dysplasias are complex conditions that often require care from multiple specialists throughout childhood.

Children with skeletal dysplasia often require highly specialized care across multiple disciplines, including orthopedics, endocrinology and growth monitoring, physical therapy, occupational therapy, rehabilitation, psychology, nutrition, genetic counselling and more. At Shriners Hospitals for Children Canada, these specialists work together as one integrated team, providing families with coordinated, comprehensive care that few centers in the world can offer.

Our goal is to offer a true medical home for these patients - a place where families can access coordinated, comprehensive care from providers who specialize specifically in rare bone disease.

Our greatest strength is bringing world-leading expertise together under one roof. By integrating internationally recognized multi-disciplinary specialists and allied health team, we provide children with skeletal dysplasia and their families with coordinated care that is among the most comprehensive in the world.

As the hospital's first pediatric endocrinologist, my role extends beyond endocrinology. I oversee the medical management of children with skeletal dysplasia, ensuring their care is coordinated, patient-centered and truly multidisciplinary. By integrating expertise in growth, bone metabolism, hormonal health and emerging targeted therapies with world-class orthopedic care, we can provide each child with comprehensive, personalized treatment.

Looking Ahead

For families searching for answers, it is important to know that specialized care exists, research is advancing rapidly, and there are more treatment possibilities today than ever before.

Our vision is to continue advancing skeletal dysplasia care through innovative research, collaboration and comprehensive patient-centered care, while ensuring families have access to the expertise, support and treatments they need.

Shriners Hospitals for Children Canada is pleased to announce the opening of the new interdisciplinary skeletal dysplasia clinic. Families and health-care providers who suspect a skeletal dysplasia or require specialized consultation are encouraged to contact the clinic or visit Shriners Hospitals for Children Canada's website for referral information.

Learn more about Dr. Marie-Eve Robinson.