Skeletal Dysplasia

The Skeletal Dysplasia Program at the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Delaware 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.

Your child's initial visit in the Skeletal Dysplasia Program is usually a diagnostic visit through our medical genetics division. These visits are quite comprehensive and can often take 1-2 hours to complete. During the visit we will:

• obtain a thorough medical history and a three-generation family history
• review old medical records and previously obtained X-rays
• perform a physical examination including detailed measurements 
• assess ranges of joint motions and the relative length of the limb segments  

Depending upon this evaluation, further radiological, biochemical, or molecular testing may be indicated.

We base a specific diagnosis of a skeletal dysplasia in an individual child upon the totality of all the data we gather. Often obtaining a diagnosis can be accomplished in our initial evaluation, but sometimes this is not the case. Some dysplasias can take time to diagnose, and a comprehensive evaluation may need to be repeated.

It's important to know that these disorders can evolve and change with time. Once a specific diagnosis is made, we will tailor the treatment and management strategies to meet the needs of your child and family. In addition to medical care and referrals, we will also provide emotional and psychosocial support and genetic counseling services.

Orthopedic care is a critical component in the effective management of children with skeletal dysplasias. If a coordinated appointment is requested, specialists in our orthopedics division will conduct the evaluations. Our state-of-the-art care for your child is directed towards maximizing mobility, correcting deformity, and preventing complications.

In the genetics clinic, we follow our patients at approximately six-month intervals until the age of six. Then visits are typically spaced yearly and orthopedics will make follow-up determinations based upon the most recent evaluation.

We understand that arranging travel and multiple appointments can be difficult, so we structure our program to enable your family to come and see our physicians and any other specialists on a single day.

For families traveling long distances, a nearby Ronald McDonald House is available. To find out more, call 302-656-HUGS or visit our Ronald McDonald House website.

For more information about skeletal dysplasias, including fact sheets and resource links, please visit our Skeletal Dysplasia Program in Orthopedics.