Maroteaux-Lamy syndrome

also called  Mucopolysaccharidosis Vi,  

      uncommon hereditary metabolic disease characterized by dwarfism, hearing loss, and progressive skeletal deformity. Onset of the disease is usually in early childhood, with some coarsening of facial features evident by the first birthday. Eye changes, consisting of corneal opacification and hypertelorism, or unusual widening of the space between the eyes, and enlargement of the liver and spleen are also features of the disease. Intelligence is normal, but the lifespan is greatly shortened; affected persons seldom survive beyond age 20. Like other mucopolysaccharidoses, Maroteaux-Lamy syndrome is caused by a defect in one of the enzymes that govern mucopolysaccharide metabolism, which is important in the development of connective tissue. The disorder is inherited as a recessive trait.

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Universalium. 2010.

Look at other dictionaries:

  • Maroteaux–Lamy syndrome — Classification and external resources ICD 10 E76.2 ICD 9 277.5 …   Wikipedia

  • Maroteaux-Lamy syndrome — A form of mucopolysaccharidosis with onset before age three, Maroteaux Lamy syndrome is characterized inability to metabolize dermatin sulfate. This leads to abnormal accumulation of dermatin sulfate, mostly in the peripheral tissues. The result… …   Medical dictionary

  • Maroteaux-Lamy syndrome — Mucopolysaccharidosis type VI; deficiency of the lysosomal enzyme arylsulphatase B; resembles Hurler s disease in some respects …   Dictionary of molecular biology

  • síndrome de Maroteaux-Lamy — Eng. Maroteaux Lamy Syndrome Síndrome caracterizado a nivel ocular por tortuosidad de las venas de la retina, normalidad en el ERG y cambios corneales. Mucopolisacaridosis tipo VI …   Diccionario de oftalmología

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Lamy — Maurice, French physician, 1895–1975. See Maroteaux L. syndrome …   Medical dictionary

  • Maroteaux — Pierre, French medical geneticist, *1926. See M. Lamy syndrome …   Medical dictionary

  • Liste der Syndrome — Diese Seite listet in alphabetischer Reihenfolge und ohne Anspruch auf Vollständigkeit Syndrome und Komplexe aus unterschiedlichen medizinischen Fachgebieten auf. Bitte nur Verweise auf den tatsächlichen Titel des Beitrags und keine… …   Deutsch Wikipedia

  • Hunter syndrome — Classification and external resources ICD 10 E76.1 ICD 9 277.5 …   Wikipedia

  • Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 …   Wikipedia

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