lipochondrodystrophy

Thesaurus

Noun

1.lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardationdysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndromemonogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genesmucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues

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]

Hurler,

Gertrud, German pediatrician, 1889-1965. Hurler disease - Synonym(s): Hurler syndromeHurler 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 mucopolysaccharidosisPfaundler-Hurler syndrome - Synonym(s): Hurler syndrome

lipochondrodystrophy

lipochondrodystrophy