Friday, August 3, 2012

Dubowitz Syndrome

Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance (small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.) 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.[1] The pathogenesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease.[2] The main method of diagnosis is through identification of facial phenotype. Since it was first described in 1965 by English physician Victor Dubowitz, over 140 cases have been reported worldwide. A majority of cases have been reported from the United States, Germany and Russia, and it appears to affect all ethnicities and genders equally.[1]





Here is what a cute boy looks like with Dubowitz Syndrome!!! The most sweetest boy you will ever know!!!

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