hurler's syndrome definition

<syndrome>

Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance.

See: mucolipidosis.

Synonyms: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis.

(05 Mar 2000)