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

Shriners Hospitals for Children Canada is pleased to announce the opening of a new interdisciplinary skeletal dysplasia clinic. 

By Marie-Eve Robinson, M.D., C.M., MSc., FRCPC

When parents hear the words skeletal dysplasia, one of the first things they do is search for answers.

What does this diagnosis mean for my child? Will they need surgery? What treatments exist? Where can we find the best care?

As a pediatric endocrinologist specializing in metabolic and genetic bone disorders, these are the questions I hear from families every day. And one of the most important things I tell parents is that the field of skeletal dysplasia care is changing rapidly. Today, we understand these conditions better than ever before, and we are able to offer specialized care and targeted therapies that did not exist a decade ago.

At Shriners Hospitals for Children Canada, we are building a multidisciplinary skeletal dysplasia program designed specifically around the needs of these patients and families.

What Are Skeletal Dysplasias?

Skeletal dysplasias are a group of genetic conditions that affect how bones and cartilage grow and develop. Together, they occur in approximately 1 in every 5,000 live births.

There are hundreds of different skeletal dysplasias, including achondroplasia, hypochondroplasia, osteogenesis imperfecta, multiple epiphyseal dysplasia and more. While some may associate these conditions only with short stature, skeletal dysplasias can affect many aspects of a child’s health and development.

Children may experience skeletal deformities, chronic pain, fractures, muscle weakness, mobility challenges, spinal complications or respiratory issues. Every diagnosis is different, which is why specialized care is so important.

Why Diagnosis and Expertise Matter

One of the biggest challenges families face is obtaining an accurate diagnosis and understanding what it means for their child in the long term.

Advances in genetics have transformed skeletal dysplasia care. Today, molecular diagnosis can help guide treatment decisions, identify complications earlier and connect patients to emerging therapies and clinical trials.

At Shriners Hospitals for Children Canada, we have a world-renowned genomics laboratory led by Frank Rauch, M.D., that helps identify and better understand rare bone diseases, often diagnosing conditions that have gone unrecognized elsewhere.

Rare diseases require experience. Because we care for patients from across Canada and internationally, we have expertise managing conditions that many centres may see only rarely.

That level of specialization matters when treating complex bone disorders.

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.