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Shriners Children’s supports families and provides full service care to children with skeletal dysplasia conditions.

Skeletal dysplasia is an umbrella term for more than 400 hundred rare conditions which cause a child’s bones and cartilage (connective tissue) to develop differently. It is sometimes referred to as dwarfism. Bones in the spine, skull, arms and legs may be shorter or crooked. Some skeletal dysplasias also cause developmental delays.

These conditions are overwhelming for new or expectant parents, but Shriners Children’s, as one of the largest pediatric orthopedic healthcare systems, has specialized teams and support services to help children with skeletal dysplasia enjoy healthy, full lives.

Shriners Children’s offers a care team of specialists in pediatric orthopedic surgery, neurology, otolaryngology (ear, nose and throat), physical and occupational therapy, and special rehabilitation physicians called physiatrists. Our multidisciplinary approach assesses each child and clinicians collaborate to provide thorough, comprehensive care.

Shriners Children’s also provides genetic testing to help physicians and the family reach a diagnosis. Skeletal dysplasias are generally genetic conditions. A mutation (change or defect) in a specific gene causes changes from normal growth. They may be diagnosed on ultrasound during pregnancy or not apparent until the child begins to grow.

Specific treatments and services may vary by location. Please contact a specific location for more information.

There is such a broad spectrum of conditions, so it’s not as easy as just identifying a syndrome. You really need a multidisciplinary team to solve the complexities.
Dennis Roy, M.D., Shriners Children's Portland

Multidisciplinary Treatment

With more than 400 conditions, each child’s treatment approach will vary based on the severity and impact of their differences. Below are some of the common skeletal dysplasia conditions treated at Shriners Children’s. If you don't see your child's condition, please call a Shriners Children's location.

  • Achondroplasia (most common) and other types of dwarfism
  • Osteogenesis imperfecta (brittle-bone disease)
  • Marfan syndrome
  • Metabolic bone disorders
  • Blount’s disease
  • Rickets
  • Achondrogenesis
  • Campomelic dysplasia
  • Cleidocranial dysplasia
  • Diastrophic dwarfism,
  • Hereditary multiple exostoses (osteochondromas)
  • Hypochondroplasia
  • Larsen's syndrome
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)
  • Mucopolysaccharidosis (MPS - all types) with enzyme replacement for type IV Morquio syndrome
  • Multiple epiphyseal dysplasia (MED) and metaphyseal dysplasias
  • Ollier disease
  • Spondyloepiphyseal dysplasia congenita (SEDc)
  • Thanatophoric dysplasia

A Full Service Approach for Your Child

We recognize that caring for a child with skeletal dysplasia requires a team approach. Shriners Children's locations offer a wide variety of pediatric services that can help diagnose your child including motion analysis centers, pediatric radiology, facial and dental imaging, and orthotic services on-site.

Other specialists focus on supporting the emotional and social needs of your child such as psychologists, social workers and RN care management, and child life specialists.

patient outside in wheelchair, laughing

Searching for New Treatments and Care

Four Shriners Children's locations are part of a national Brittle Bones Research Consortium, studying osteogenesis imperfecta (OI), a rare disorder that causes bones to break easily. “We are enthusiastic about the opportunity to learn more about this rare disorder and share information through research and publications to improve care,” said Peter Smith, M.D., principal investigator at Shriners Children's Chicago.

Innovative Treatments

View All Related Treatments

Orthopedic Surgery

With their expertise in treating children from toddlers to teens, the pediatric orthopedic surgeons at Shriners Children’s understand the challenges of planning ahead for growing bones and bodies.

Bracing

Shriners Children's multidisciplinary team includes orthotists who create braces to meet the individual need of each child – whether to treat a complex condition or common injury.

Physical Therapy

Physical therapy at Shriners Children's helps children build confidence and strength, focusing on what is important to them and what they love to do in their daily lives.

Occupational Therapy

Occupational therapists at Shriners Children's help kids be as independent as possible, focusing on what is important to them and what they love to do in their daily lives.

Spine Surgery

At Shriners Children's, we explore all non-surgical options for your child's spine before considering surgery. If surgery is recommended, your child will be in the hands of our world renown orthopedic surgeons.

Pediatric Orthotic and Prosthetic Services

Shriners Children’s Pediatric Orthotic and Prosthetic Services designs, fits and manufactures orthotics and prosthetics for children from infants to young adults.

Craniofacial Surgery

Shriners Children’s provides life changing specialty care for children with craniofacial conditions, developing a treatment plan that fits their specific needs.

Next Steps

Request an Appointment

Families and caregivers seeking treatment should start by contacting us for an appointment.

Log in to the Patient Portal

Parents and guardians of existing patients can email, request records, schedule appointments and more.

Refer a Patient

Physicians and healthcare providers can request appointments, start transfers or contact us with questions.