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Dubowitz Syndrome Guide

written by: J.Sace•edited by: lrohner•updated: 10/21/2010

An extremely rare genetic and developmental disorder, Dubowitz syndrome is caused by a mutation in a gene that has yet to be identified. Read on to learn the genetics, symptoms, diagnosis, treatment and prognosis of this disorder.

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    According to geneticists, Dubowitz syndrome is caused by a genetic mutation which not yet identified. They strongly believe that this disorder is inherited in an autosomal recessive manner, which means a child would have to receive two copies of the mutant gene, one from the father and another from the mother, in order to develop the disorder. Couples with one affected child have a 25 percent chance that their next child will be affected. This disorder affects both males and females equally regardless of ethnicity.

    Dubowitz syndrome is one of the rarest genetic disorders with only 142 reported cases worldwide. Majority of these cases came from the United States, Russia, and Germany.

    This disorder was first described in 1965 by Dr. Victor Dubowitz, an English physician.

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    Signs and Symptoms

    Low birth weight commonly seen in children born with Dubowitz syndrome. Due to deficiency in growth hormones, affected children suffer from stunted growth. The unidentified genetic mutation may have caused malformation or damage to the pituitary gland which produces growth hormone. It may also affect the hypothalamus, the part of the brain that regulates hormone production in the pituitary gland.

    Infants born with the disorder have smaller than normal head circumference, or microcephaly, usually as the result of improper brain development.

    The primary way in which the disorder is recognized is through facial symptoms. Affected individuals have small face which is often triangular in shape with a pointed, receding chin. They also have broad wide-tipped nose, broad and sloping forehead, and wide-set eyes with drooping eyelids.

    Mental retardation is not observed in all cases of Dubowitz syndrome despite the small head size. Roughly 30 to 70 percent of affected individuals have mild mental retardation.

    People with the disorder have also extreme hyperactivity, seizures, temper tantrums, language difficulties, shyness, fondness for music and a preference for concrete thinking rather than abstract thinking. Other symptoms include eczema, palate deformations, genital abnormalities (e.g. undescended testicles), sparse hairs, partial webbing of fingers and toes, gastroesophageal influx and soft, high pitched cry or voice.

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    Since the mutant gene is not yet identified, genetic testing cannot be used for diagnosis. The facial characteristics, medical history and growth data are usually used by physicians or geneticists to diagnose Dubowitz syndrome.

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    Like most genetic disorders, Dubowitz syndrome has no medical treatment but there are treatment options to lessen the severity of the symptoms. Physical anomalies like palate deformation, drooping eyelids, and cardiovascular defects can be treated with surgery. Eczema is treated with skin creams containing corticosteroid. Language difficulties can be lessened with speech therapy. There are available medications for hyperactivity and seizures. Affected individuals and their families can join support groups to better understand the disorder.

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    The prognosis of individuals affected with Dubowitz syndrome is good as long as the management of symptoms is maintained. They can survive to adulthood and lead fairly normal lives, although some of them have mild mental retardation.