lipochondrodystrophy

Hur·ler syn·drome

(hŭr'ler),

mucopolysaccharidosis in which there are deficiency of α-l-iduronidase, 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 hands, corneal clouding, hepatosplenomegaly, mental retardation, and gargoylelike facies; autosomal recessive inheritance, caused by mutation in the α-l-iduronidase gene (IDUA) on 4p.
See also: mucolipidosis.

Synonym(s): Hurler disease, lipochondrodystrophy, mucopolysaccharidosis type IH, Pfaundler-Hurler syndrome

[Gertrud Hurler]

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Hurler,

Gertrud, German pediatrician, 1889-1965.

Hurler disease - Synonym(s): Hurler syndrome

Hurler syndrome - mucopolysaccharidosis with severe abnormality in development of skeletal cartilage and bone, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies. Synonym(s): dysostosis multiplex; Hurler disease; lipochondrodystrophy; Pfaundler-Hurler syndrome; type IH mucopolysaccharidosis

Pfaundler-Hurler syndrome - Synonym(s): Hurler syndrome

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