Skeletal Dysplasia

The skeletal dysplasias are a group of conditions characterized by abnormalities in the growth, development, shape, or integrity of the bones and cartilage. They can lead to a wide variety of medical problems, but the most common feature among them is dwarfism (defined as having a final adult height below 4’10”).

Most skeletal dysplasias result from a spontaneous genetic mutation at or before conception. Children with skeletal dysplasias have multiple medical and social needs, many of which are unique to their condition.

Skeletal Dysplasia: The Nemours Difference

The Skeletal Dysplasia Program at the Nemours/Alfred I. duPont Hospital for Children is one of the world's foremost centers in the treatment of skeletal dysplasia, offering expert, state-of-the-art medical and surgical care for children with dwarfism. Our goal is to maximize your child’s mobility, correct deformity, and prevent future complications.

About one out of every 10,000 babies – only a fraction of 1% of the U.S. population – has dwarfism. Many pediatricians and obstetricians lack the experience to diagnose and care for them. That's why more than 250 short-statured children from around the world come to duPont each year to get what they can't find at home – expert recommendations from a clinic that treats these children from both a genetic and orthopedic perspective.

Our doctors, counselors, nurses, and staff are uniquely qualified and share a strong commitment to the long-term health and well-being of our patients and their families. Together, we have over 85 years of experience in the diagnosis and management of children with skeletal dysplasias.

It's comforting for parents to know that their child’s complex medical and surgical needs can be met in one place. If your child needs to see multiple specialists, we share our findings with each other so that treatment is a true collaboration.

Nationwide, there are about a half dozen clinics that treat children and adults with skeletal dysplasia. But our reputation for diagnosing and treating tough cases has made us a favorite among families. Parents tout our program in online forums for families of little people.

Among the Conditions We Treat

  • Achondroplasia
  • Campomelic dysplasia
  • Cartilage hair hypoplasia
  • Diastrophic dysplasia
  • Ellis-Van Creveld dysplasia
  • Hypochondroplasia
  • Kniest dysplasia
  • Limb-length discrepancy
  • Metatropic dysplasia
  • Morquio syndrome
  • Multiple epiphyseal dysplasia
  • Primordial dwarfism
  • Pseudoachondroplasia
  • Skeletal dysplasia
  • Spondylo-epiphyseal dysplasia
  • Thanatophoric dysplasia
Change Location

Skeletal Dysplasia

The Potentials Foundation is sponsoring a registry of individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) and other related forms of primordial dwarfism. The purpose of this registry is to learn more about MOPDII and how to predict and treat medical problems and conditions that arise as a result. The name of the registry is “The Potentials Foundation Primordial Registry at Nemours/Alfred I. duPont Hospital for Children”. Dr. Michael Bober at the hospital is the physician in charge of this registry. This study involves only the collection and storage of data extracted from the medical record. There are no special procedures, visits, or expectations of you as a result of participation in this registry. You will not be asked to have any specific testing for the sole purposes of research. We are asking for your permission to review your existing medical records.

The following other specialists are also involved:

  • William Mackenzie, MD
    Orthopedics
    Nemours/Alfred I. duPont Hospital for Children
  • Carol Wise, PhD
    Geneticist
    Texas Scottish Rite Hospital for Children
  • Christine Flora, MS
    Geneticist
    St. Joseph’s Regional Medical Center, NJ
  • Elizabeth Hale
    President
    Potentials Foundation
  • Kenneth Rogers, PhD, ATC
    Orthopedics
    Nemours/Alfred I. duPont Hospital for Children


If you would like more information about this registry or would like to discuss if you or someone else is eligible to participate please contact either:

Michael B. Bober, MD, PhD
Nemours/Alfred I. duPont Hospital for Children
1600 Rockland Road
Wilmington, DE  19803
302-651-5916

OR

Christina Flora, MS
St. Joseph's Children's Hospital
Genetics Division
703 Main Street
Paterson, NJ  07503
973-754-2727

If you have questions about your child’s rights as a research subject, what to do if your child is injured, if you would like to offer input or obtain information, or if you cannot reach the investigator or want to talk to someone else who is not involved with this research, you may contact the persons listed below:

For Delaware Studies Only:

Carlos Rose, MD
Chairperson
Nemours - Delaware Institutional Review Board
(302) 651-5970

For all studies:

Paul Garfinkel, MSH
Director
Nemours Office for Human Subjects Protection
(904) 697-4023

Nemours Long Distance Operator: (800) SOS-KIDS (800-767-5437)

Website: http://www.nemours.org/research/compliance.html

Email address: NOHSP@nemours.org

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