Skeletal Dysplasia

The Skeletal Dysplasia Program at Johns Hopkins All Children’s Hospital brings together a team of specialists across our hospital for more individualized, comprehensive care.

The Skeletal Dysplasia Program at Johns Hopkins All Children’s Hospital focuses on the diagnosis and management of skeletal dysplasia in children and young adults up to 21 years of age. Skeletal dysplasia can often involve multiple systems, including but not limited to the neurologic, respiratory, orthopaedic and cardiac systems. It is our goal to treat all issues brought on by skeletal dysplasia. Our coordinated care brings together a team of doctors and staff across our hospital, allowing our patients to see several specialists in two days of appointments for more individualized, comprehensive care.

Give us a call

We are ready to answer your questions. For more information or to schedule an appointment, call the Skeletal Dysplasia office.

Call 727-767-4881

Request an appointment online

Request an appointment online and someone will contact you to schedule an appointment. Appointments will be scheduled with specialists over two days. All of our providers are located on our main campus within one or two blocks of each other. Accommodations can be made at the Ronald McDonald House for those families who require an overnight stay.

Request an appointment

What is Skeletal Dysplasia?

Skeletal dysplasia is a term for more than 400 conditions that affect bone development, neurological function and cartilage growth. The most common of them being achondroplasia. These disorders affect how a baby’s skeletal system develops inside the womb. Generally, the causes of skeletal dysplasia can be the result of spontaneous or inherited genetic mutations.

Some forms of skeletal dysplasia can be diagnosed through a prenatal ultrasound. Other conditions, however, may not be noticeable until early childhood.

Some symptoms of skeletal dysplasia may include:

  • Short stature
  • Large head with prominent forehead
  • Long trunk, shorter arms and legs
  • Leg bowing, club foot
  • Kyphosis 

How We Treat Skeletal Dysplasia

We first help patients and their families understand the diagnosis and then offer the best plan of care for their child. Our treatment approach focuses on providing patients and their families with the best health care and educational resources that will keep patients as healthy and as active as possible.

Our team treats most skeletal dysplasias and cares for patients at any stage in their diagnosis. Our treatment approach includes:

  • A key collaboration: We collaborate with the Greenberg Center for Skeletal Dysplasia at Johns Hopkins Medicine in Baltimore, the oldest clinic for patients with skeletal dysplasias.
  • A coordinated approach to care: Our patients will see providers specific to their needs and will meet with each provider in his or her office on the Johns Hopkins All Children’s campus. The appointment schedule to see all providers will span two days. Our families coming from a distance are welcome to ask about rooms in our Ronald McDonald House on campus.
  • Monitoring patients as they grow: We carefully monitor each patient as he or she grows to treat issues that may arise.
  • Nonsurgical treatment options: There are a variety of nonsurgical treatment options that depend on the type of skeletal dysplasia the child has. Some options include bracing, growth hormone therapy, medications and physical therapy.
  • Surgical treatment options: If a patient needs surgery, we work with our specialists to carefully plan procedures at the best time during a child’s growth period. Surgical treatment options may be needed to improve a child’s comfort and quality of life and may include:
    • Orthopaedic surgery for limb and spine corrections.
    • Neurosurgery for brain or spine conditions like cervical medullary compression, cervical spine instability or hydrocephalus.
    • Ear, nose and throat surgery to help with issues related to sleep apnea, and hearing, like ear tubes and tonsillectomy. 

About Our Coordinated Care Team

Our multidisciplinary care teams include experts from the following Johns Hopkins All Children’s Hospital specialties:

  • GeneticsGenetics will see patients and their families for education of the type of dysplasia, genetic testing and counseling.
  • NeurosurgeryNeurosurgery will evaluate and treat conditions such as foramen magnum compression, spinal stenosis, plagiocephaly and hydrocephalus.
  • Psychology: We offer psychology and neuropsychology evaluations to help patients and families with emotional, learning and school-related needs.
  • Pulmonology/Sleep Medicine: Our Pulmonology and Sleep Medicine specialists evaluate and treat patients for sleep apnea and if needed, work closely with neurosurgery and ENT for treatment plans.
  • Rehabilitative MedicineRehabilitation medicine evaluates and treats patients for physical, occupational and speech issues and helps patients with independence.
  • Referrals as needed: If needed, our team will make referrals to Physical TherapySpeech Therapy and Occupational Therapy.

The following private practices here at Johns Hopkins All Children’s Hospital are committed to the Skeletal Dysplasia Program:

  • ENTEar, Nose & Throat Specialists - evaluate and treat issue related to sleep apnea, hearing and breathing.
  • Orthopaedics : Children’s Orthopaedic and Scoliosis Surgery Associates - evaluate and treat conditions like scoliosis, kyphosis, clubfeet, bowed leg, leg length and joint problems. 

Resources for Families

The links provided are for informational purposes and solely for the user's convenience.

Little People of America provides resources and support for families:

Dwarf Athletic Association of America

Accommodations recommendations for students

Skeletal Dysplasia Location & Contact

Our Skeletal Dysplasia Program provides services at Johns Hopkins All Children's main campus in St. Petersburg:

PHONE: 727-767-4881

St. Petersburg Office

501 6th Avenue S., St. Petersburg, FL 33701

Read stories from our Institute for Brain Protection Sciences:

Traumatic Brain Injury: Jaden's Story

When Jaden suffered a traumatic brain injury during a boat accident, multiple specialists at Johns Hopkins All Children’s came together to save the 13-year-old’s life. Now he’s surpassing every expectation with the help of his expert care team, his own positive attitude and his family’s support.

Read More

Traumatic Brain Injury: Jake's Story

A neighbor discovered Jake and his wrecked Onewheel and called 911. The teen was airlifted by LifeLine, a critical care transport team, to Johns Hopkins All Children’s Emergency Center and admitted to the PICU. With support from the hospital’s Institute for Brain Protection Sciences and his family and community, Jake has continued to make a remarkable recovery.

Read More

Shaping Up for the Future

Mandy knew something wasn’t right as soon she laid eyes on her new baby girl. As soon as she was discharged from the hospital, Mandy decided to get another medical opinion. As a nurse and a mom, she knew she would have to travel outside of Key West to find a specialist. By coincidence, the pediatrician who provided the second opinion often traveled to Johns Hopkins All Children’s Hospital.

Read More

Mahi's Fight to Walk Makes Her a Hospital Celebrity

After her parents were in a car accident, Mahi was born prematurely and she spent 45 days in the Neonatal Intensive Care Unit. Mahi's bubbly personality, positive attitude and hard work in physical and occupational therapy has made her a patient celebrity at Johns Hopkins All Children's Hospital.

Read More

Amy Sullivan, R.N., Receives the DAISY Award

Amy Sullivan, R.N., is a clinical nurse in the Institute for Brain Protection Sciences.

Read More