Robinow syndrome

Robinow syndrome is an extremely rare genetic disorder marked by short-limbed dwarfism, differences in the head, face and external genitalia, and segmentation defects of the vertebrae. It was first described in 1969 by the human geneticist Meinhard Robinow together with the physicians Frederic Silverman and Hugo Smith, in the American Journal of Diseases of Children. Two forms exist, a dominant form that is more common and usually moderate, and a recessive form that tends to be more physically marked and to involve more skeletal abnormalities. The recessive form is particularly frequent in Turkey, where affected families can be traced to a single town in the east of the country, and clusters have also been recorded in Oman and Czechoslovakia. By 2002 more than one hundred cases had entered the medical literature. The condition has also been called Robinow-Silverman-Smith syndrome, fetal face syndrome and, for the recessive form, Covesdem syndrome.