Morquio syndromeE76.2

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Morbus Morquio; Morquio-Brailsford disease; Morquio disease

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

HistoryThis section has been translated automatically.

Morquio, 1929; Brailsford, 1929

DefinitionThis section has been translated automatically.

Storage disease belonging to the hereditary mucopolysaccharidoses.

Occurrence/EpidemiologyThis section has been translated automatically.

  • Incidence (M. Morquio): 1/40.000-200.000 inhabitants/year.
  • Incidence (all mucopolysaccharidoses): 3-4/100,000 inhabitants/year.

EtiopathogenesisThis section has been translated automatically.

Autosomal recessively inherited mutations of the genes for galactosamine-6-sulfate sulfatase (M. Morquio type A; gene locus; 16q24.3) or beta-galactosidase (M. Morquio type B) Both enzyme defects cause the lysosomal storage of keratan sulfate or chondroitin sulfate e.g. in connective tissue cells, but not in the brain.

ManifestationThis section has been translated automatically.

Occurring in infancy, no sex preference.

Clinical featuresThis section has been translated automatically.

Disproportionate short stature, pigeon breast, knock-knees, fine corneal opacity, enamel defects, skeletal dysplasia with platyspondylia, coxa valga, shortening of all tubular bones. Normal intelligence!

LaboratoryThis section has been translated automatically.

Increased excretion of keratan sulfate in children.

LiteratureThis section has been translated automatically.

  1. Brailsford JF (1929) Chondro-osteo-dystrophy. Roentgenopgraphic & clinical features of a child with dislocation of vertebrae. At J Surgery (New York) 7: 404-410
  2. Brailsford JF (1931) Chondro-osteo-dystrophy. Roentgenopgraphic & clinical features of a child with dislocation of vertebrae. Br J Radiol (London) 4: 83-89
  3. Gosele S et al (2000) Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis. Clin monthly ophthalmology 217: 114-117
  4. Montano AM et al (2003) Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. Hum Genet 113: 162-169
  5. Morquio L (1929) Sur une forme de dystrophie osseuse familiale. Archives de médecine des enfants (Paris) 32: 129-135
  6. Morquio L (1929) Sur une forme de dystrophie osseuse familiale. Bulletin of the Société de pédiatrie de Paris 27: 145-152
  7. Ransford AO et al (1996) Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. J Bone Joint Surg Br 78: 307-313
  8. Walker PP et al (2003) Upper airways abnormalities and tracheal problems in Morquio's disease. Chest 58: 458-459

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer