What is Skeletal Dysplasia?

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  • Written By: Summer Banks
  • Edited By: Michelle Arevalo
  • Last Modified Date: 11 September 2019
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Skeletal dysplasia is a general medical term used for dwarfism. The term is often used by doctors to refer to a larger group of symptoms thought to be caused by growth disorders. There are actually 380 different types of bone disorders that fall under the category of dysplasia. In some cases, patients notice the physical characteristics first, and are later diagnosed with a growth problem.

It is estimated that one out of every 5,000 babies born in the United States is born with some form of growth disorder. Common diagnoses include achondrogenesis, achondroplasia, and osteogenesis imperfecta. Turner Syndrome and Noonan Syndrome are also forms of skeletal dysplasia. Approximately 40% of children born with skeletal dysplasia die soon after birth.

The characteristics of skeletal or bone dysplasia are numerous. Some of the most common symptoms include short arms, bowed legs, and a larger than average head. The short arms may also be paired with abnormally small fingers, toes and body trunk. Generally, patients are diagnosed in utero, during a routine ultrasound, and are identified because the fetus is often smaller than a healthy fetus of the same age. If an ultrasound is not performed, parents and doctors may notice that a baby with dysplasia is unusually small at birth.


Once the physical characteristics of the growth disorder are recognized, the doctor could request one of three tests to determine the severity of the condition. The abnormal skeletal system can be tested using X-rays, magnetic resonance imaging (MRI), or computed topography (CT). While the bones are often the focus of these tests, the heart and brain may also be studied. In some cases, the heart and brain can be deformed, causing a greater potential for heart problems or mental retardation.

Although skeletal dysplasia is a genetic condition with no known cure, but there are treatments for the condition. In some cases, patients choose to have the bones in their legs and arms lengthened. This lengthening process can be very painful and time-consuming. In order to lengthen a bone, the bone will often be surgically broken and braced, with a gap left between the broken pieces. If the procedure is successful, new bone grows in this gap, making the bone longer.

Years ago, a patient diagnosed with dwarfism was often prescribed growth hormones to treat the condition. These drugs are still used today by some doctors. The effects of growth hormones on skeletal dysplasia may vary based on the patient's specific diagnosis. For instance, people with Turner Syndrome may react differently to hormone treatments than patients with achondroplasia.



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