Also found in: Wikipedia.
Ma·ro·teaux-·La·my syn·drome(mah-rō-tō' lah'mē), [MIM*253200]
an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after 2 years of age; autosomal recessive inheritance, caused by mutation in the arylsulfatase B gene (ARSB) on chromosome 5q.
Maroteaux-Lamy syndrome(măr′ə-tō′lä-mē, mä-rô-)
A type of mucopolysaccharidosis (MPS VI) characterized by the presence of dermatan sulfate in the urine, skeletal abnormalities, corneal clouding, hearing loss, and enlargement of the liver and spleen.
Etymology: Pierre Maroteaux, French physician, b. 1926; Maurice Emile Joseph Lamy, French physician, 1895-1975
a mucopolysaccharidosis characterized biochemically by the predominance of the mucopolysaccharide dermatan sulfate in the urine and the presence of coarse granules in the leukocytes and clinically by Hurler-like signs with normal intelligence. There are three clinical forms: the severe or classic form shows Hurler-like symptoms (see Hurler's syndrome); the intermediate form has the same phenotype as pseudo-Hurler polydystrophy; and the mild form is difficult to distinguish from the Scheie's syndrome. Also called mucopolysaccharidosis VI.
mucopolysaccharidosis type 6An autosomal recessive lysosomal storage disease (OMIM:253200) characterised by intracellular accumulation of dermatan sulfate.
Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly and cardiac defects.
Defects in ARSB on chromosome 5q11-q13, which encodes arylsulfatase B, causes mucopolysaccharidosis type 6.
Lamy,Maurice Emile Joseph, French physician, 1895-1975.
Maroteaux-Lamy syndrome - see under Maroteaux
Maroteaux,Pierre, French medical geneticist, 1926–.
Maroteaux syndrome - metaphyseal dysostosis of the knees.
Maroteaux-Lamy syndrome - an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, and skeletal deformities. Synonym(s): polydystrophic dwarfism; type VI mucopolysaccharidosis
Maroteaux-Spranger-Wiedemann syndrome - genetic defects.