A type of mucopolysaccharidosis (MPS IH) characterized by the presence of dermatan sulfate and heparan sulfate in the urine, skeletal abnormalities, facial dysmorphism, corneal clouding, enlargement of the liver and spleen, intellectual disability, and hearing loss.
(pathology, pathology) A genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase.
Origin of hurler-syndrome
Named after Gertrud Hurler, a German pediatrician and a medical practitioner.
Hurler-syndrome Sentence Examples
About one child in 100,000 is born with Hurler syndrome.
Symptoms of Hurler syndrome are often evident within the first year or two after birth.
It is also highly variable, but symptoms are generally similar to those seen in individuals with Hurler syndrome.