UCLA Department of Human Genetics

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. 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. 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.