Skeletal dysplasia: A legacy of coordinated care

Skeletal dysplasia is a medical term that covers more than 700 conditions that have to do with the way a person’s bones and cartilage grow.

Typically, these conditions impact the size of a person’s arms, legs, abdomen and head. Dwarfism, or having short stature (typically 4 foot, 10 inches or shorter), is a common result of being born with a skeletal dysplasia.

Few centers in the Midwest have as long a history as UW Health when it comes to caring for patients with skeletal dysplasia. There are only a handful of comprehensive skeletal dysplasia programs in the country and most are located outside the region.

Having a bone dysplasia, while considered a rare condition, is not something uncommon to our team of experts. Established in 1981, UW Health’s Skeletal Dysplasia Clinic was created by Dr. Richard Pauli, a pioneer in clinical genetics and research who retired after decades in the field. Patients come to Madison from across the Midwest and beyond because of our strong reputation.

Today, the Skeletal Dysplasia Clinic consists of specialists across numerous fields, including:

• Audiology

• ENT (ear, nose and throat)

• Genetics

• Neurosurgery

• Nursing

• Ophthalmology

• Orthopedics and rehabilitation

• Pulmonology

• Sleep medicine

We specialize in diagnosing and managing a wide range of skeletal disorders, including bone dysplasias, metabolic bone abnormalities and structural abnormalities.

With access to experts in many specialties, we diagnose, manage and coordinate care for children and adults for conditions such as achondroplasia, hypochondroplasia, pseudoachondroplasia, spondyloepiphyseal dysplasia and Morquio syndrome.

Our team includes experts in spinal health and surgical care, as well as genetics, ensuring advanced treatment options when needed. Each patient receives a personalized care plan tailored to their unique needs, and we work closely with primary care doctors to coordinate care. We also connect patients to support services in their own community to ensure the best possible treatment.

Our physicians are faculty of the University of Wisconsin School of Medicine and Public Health, so our clinic participates in ongoing clinical trials and research studies aimed at advancing and expanding treatment options, improving outcomes and enhancing our understanding of skeletal dysplasias.