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Dubowitz Syndrome

C. A. V. Nogueira, M.D. |
Dubowitz Syndrome is a very rare syndrome, one kind of genetic disorder which can be found in just few hundreds people in the world. Until today the gene mutation responsible for Dubowitz syndrome had not been identified.

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The definition say that it is an autosomal recessive inheritance, but new some research will give better answer what that disorder really is and how to treat patients. The syndrome was first described in 1965 by the English physician Victor Dubowitz and hence the name. This disorder causes growth retardation both before and after birth. Since it is genetic, it is primarily diagnosed through the facial features of affected persons. They have a small triangular-shaped face with a high forehead and wide-set, slitted eyes. There are a number of other symptoms which most commonly include irritation and itching of the skin.

Dubowitz syndrome is passed on through an autosomal recessive pattern of inheritance. Autosomal means that the syndrome is not carried on a sex chromosome, while recessive means that both parents must carry the gene mutation in order for their child to have the disorder. Parents with one child affected by Dubowitz syndrome have a 25 percent chance that their next child will also be affected with the disease. Although there are poeple with the syndrome all around the world, the majority of them come from the United States, Germany, and Russia - only 142 cases have been reported worldwide.

The symptoms may vary considerably but the most common physical characteristics associated with Dubowitz syndrome are growth retardation, characteristic facial appearance, and a very small head (microcephaly). A wide variety of secondary physical characteristics may be present.

Children born with Dubowitz syndrome usually have a low birth weight and their slower than normal growth continues after birth. Even if the infant is born in the normal range, the height and weight gradually falls toward the low end of growth curves during childhood. Dubowitz syndrome is not a form of dwarfism, because affected individuals have normally proportioned bodies.

The characteristic facial appearance of people with Dubowitz syndrome is the primary way in which the disorder is recognized. The face is small and often triangular in shape with a pointed, receding chin. The nose is broad with a wide or rounded tip. The eyes are set far apart and sometimes appear slitted due to a decreased distance between top and bottom eyelids or a drooping top eyelid. The forehead is high, broad, and sloping. Eyebrows and hair are thin or absent. The ears may be abnormally shaped or placed.

There are many other physical characteristics that have been observed in the majority of cases of Dubowitz syndrome, although they are not present in all person. These include a high-pitched voice, genital abnormalities including undescended testicles, gastroesophophageal reflux (returning food back from the stomach to the mouth), and inflammation and itching of the skin.

Despite the small head size of children born with Dubowitz syndrome, developmental delay is not observed in all cases. Estimates of the incidence of developmental delay in cases of Dubowitz syndrome range from 30 percent to 70 percent, and in most cases the level of the mental retardation is mild.

A number of chronic medical conditions are associated with Dubowitz syndrome and those conditions need to be managed individually with appropriate treatments. The prognosis for individuals affected by Dubowitz syndrome is good provided that management of their medical conditions is maintained. Dubowitz syndrome has not been reported to cause shortened lifespan or any degenerative conditions. People with Dubowitz syndrome can expect to survive to adulthood and lead a fairly normal lifestyle, although most have some level of mental retardation.

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