Hurler's syndrome


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Hurler's syndrome

[′hər·lərz ‚sin‚drōm]
(medicine)
Mucopolysaccharoidosis I, a hereditary condition transmitted as an autosomal recessive in which there is excessive chondroitin sulfate B and heparin sulfate in the urine and tissues, and which is marked clinically by a complex of symptoms including grotesque skeletal and facial deformities, skin and cardiac changes, clouding of the cornea, and mental deficiency. Also known as gargoylism; lipochondrodystrophy.
References in periodicals archive ?
Hurler's syndrome is the severe form of MPS type1, or mucopolysaccharidoses.
Reading about the Brain and Tissue Bank's program that would allow Ivy's tissue to be used for research on Hurler's syndrome to help other affected children, Linda felt empowered.
Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions.
Robyn - the face of the campaign - suffers from the terminal illness Hurler's syndrome and her parents regularly use Scotland's only children's hospice, Rachel House, near Kinross.
Courtney faces surgery to remove her tonsils and adenoids later this month as she battles to ward off debilitating Hurler's Syndrome.
Lindsey Devine, whose daughter Katie has a rare genetic condition called Hurler's syndrome, was invited to attend the Royal College of Nursing to contribute to the project.
Nonsense mutations inactivate gene function and are known to cause anywhere from five to 70 percent of the individual cases of most inherited diseases, such as cystic fibrosis (10%) and Hurler's syndrome (70%).