Glossary of Medical Terms

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DYSOSTOSIS MULTIPLEX

Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an emergency 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 arm, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's malady, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis.
Chotzen's syndrome   Christ   Christchurch chromosome   Christensen   Christensen-Krabbe disease   Christian, Henry   christianity   christian science   (0)
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