Dubowitz syndrome is a genetic disorder defined by slow growth, a characteristic facial appearance, and a small head. Although the exact pathology of Dubowitz syndrome is not yet known, it is almost certain that it has a genetic component.
It is classified as an autosomal recessive disease, one that can be passed down through the generations. Several cases point to dubowitz syndrome occurring in monozygotic twins, siblings as well as cousins. However, although it is a recessive trait that can be expressed to cause disorder symptoms, there has been found to be a variation in the phenotypic expression. It has been found that dubowitz syndrome is accompanied by a deficiency in the growth hormone. This is apparent in the stunted growth of individuals with this disorder. A deficiency in growth hormone may be caused by malformations of the hypothalamus or pituitary gland during development or damage to the pituitary.
In some cases, in spite of the popular symptom of microcephaly, the level of psychological retardation varies among patients. Growth hormone inadequacy too has a correlation with reduced levels of IgG, a circumstance establish in dubowitz patients. Although there is considerable evidence pointing to the genetic basis of this disorder, the symptoms that are expressed are very similar to fetal alcohol syndrome and further studies need to be done in order to determine whether this environmental agent has an effect on the expression of the genotype. Symptoms vary among patients, but other characteristics include a soft, high pitched voice, partial webbing of fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete thinking over abstract, language difficulties and aversion to crowds.
Dubowitz syndrome is inherited as an autosomal recessive trait. However, the gene or genes associated with the clinical features of this circumstance have not still been identified. One of the symptoms of dubowitz syndrome includes the dislocation of chromosomes. The pathogenesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease. The main method of diagnosis is through identification of facial phenotype. These conditions need to be managed individually with appropriate treatments. For example, skin creams containing corticosteroid drugs are used to treat eczema. Other physical problems caused by dubowitz syndrome, such as drooping eyelids or cardiovascular defects, can be corrected through surgery.
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