What is Dubowitz Syndrome?

Dubowitz syndrome, also known as intrauterine dwarfism, is an uncommon disease that only affects a few hundred people worldwide. Researchers currently believe that it is inherited from family members who carry the gene that is responsible for this disorder. There is no way to treat Dubowitz syndrome, but some of the symptoms can be treated. People affected by this disease can live just as long as people who do not have it, and in many cases, they can live fairly normal lives as well.

There currently is no diagnostic test used to diagnose Dubowitz syndrome. Most of the time, doctors rely on the signs and symptoms associated with the disease to tell them whether or not a person has it. The main sign is slow growth in the womb and continued slow growth after birth.

There also are other physical symptoms that may signify Dubowitz syndrome aside from slow growth. For example, many people affected by the disease have a small face and head. Sometimes they have a high forehead that slopes as well. In many cases, the eyelids droop and the nose is wide and flat. In addition, the eyes may be small and wide set, and the affected individual may have low-set ears.

Many people affected by Dubowitz syndrome experience itchy skin, similar to eczema. They may also have delayed speech due to a deformity in the palate of their mouths. Webbed feet may be present as well. In addition, the person may have areas where hair does not grow on the head.

There are some other signs that may be used, along with the physical symptoms, to help doctors diagnose Dubowitz syndrome. For example, most people affected with the disease have some form of mental disability or developmental delay. Affected individuals may also have a poor appetite, nausea, and diarrhea. They may be hyperactive and frequently sick as well.

There is no cure for Dubowitz syndrome. Some of the symptoms can be treated, however. For example, the itchy skin associated with the disease can be treated with a round of topical steroids. Likewise, the diarrhea and nausea can be treated with over-the-counter medications, and the hyperactivity may be treated with prescription drugs, in some cases.

In all, people affected with Dubowitz syndrome can lead productive lives. The main hindrance is developmental delay, but it often can be helped through therapy. As researchers learn more about the disease, additional treatments may become available.