Morquio syndrome

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Morquio syndrome
Classification and external resources
ICD-10 E76.2
ICD-9 277.5
OMIM 253000 253010
DiseasesDB 30807 30806
MedlinePlus 001206
eMedicine ped/1477 
MeSH D009085

Morquio's syndrome (referred to as mucopolysaccharidosis IV or Morquio's) is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a relatively rare dwarfism with serious consequences. When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms.

Contents

[edit] Types

Two forms are recognized, type A and type B.

[edit] History

The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and by James Frederick Brailsford in Birmingham, England. They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in 4 siblings in a family of Swedish extraction and reported his observations in French.

[edit] Symptoms

The following symptoms are associated with Morquio's syndrome:

  • Abnormal heart development
  • Abnormal skeletal development
  • Hypermobile joints
  • Large fingers
  • Knock-knees
  • Widely spaced teeth
  • Large head
  • Bell shaped chest (ribs flared)
  • Compression of spinal cord
  • Enlarged heart
  • Dwarfism

[edit] Complications

Complications that may develop include:[citation needed]

  • Heart failure and/or problems
  • Difficulty with vision
  • Walking problems related to abnormal curvature of the spine
  • Abnormal neck bones can cause spinal cord damage that can cause severe disease including paralysis if not caught early -- spinal fusion can prevent this
  • Problems with urination
  • Coarse facial features

[edit] External links

v • d • e
Inborn error of carbohydrate metabolism - Lysosomal storage diseases - glycosaminoglycan metabolic pathology (E76, 277.5)
Mucopolysaccharidosis
(Glycosaminoglycans)
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