Hurler syndrome

[ hur-ler sin-drohm, -druhm ]

noun

, Pathology.

1. a congenital abnormality characterized chiefly by dwarfism, deformities of the head, trunk, and limbs, intellectual disability, and enlargement of the liver and spleen.

Word History and Origins

Origin of Hurler syndrome¹

First recorded in 1935–40; named after Gertrud Hurler, a German pediatrician who described the disorder in 1919

Example Sentences

Preliminary results in mice appear encouraging for rare conditions like hemophilia B, Hurler syndrome, Fabry disease and Wolman disease.

From Washington Post

The proposal would require the Department of Health and Environmental Control to test for Hurler syndrome, Krabbe and Pompe disease in addition to the 53 conditions the agency already screens.

From Washington Times

Sangamo is also testing the liver-factory gene treatment in trials now getting underway for the blood-clotting disorder hemophilia B and another metabolic disease, Hurler syndrome.

From Science Magazine

Further safety trials using the same technology to treat haemophilia B and Hurler syndrome are also planned.

From BBC

Jacob, whose family lives near Lake Goodwin north of Marysville, was a baby when he was diagnosed at Seattle Children’s Hospital with Hurler syndrome.

From Washington Times