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
Patient UK Morquio syndrome
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.[1]:544 It is a rare type of birth defect with serious consequences. When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. These involve accumulation of keratan sulfate.[2]


The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935), a well-known Uruguayan physician who discovered it in Montevideo, and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England.[3][4][5]

They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French. The chances of getting Morquio is 1 in 200,000.


The following signs are associated with Morquio's syndrome:

Patients with Morquio's syndrome appear healthy at birth. They often present with spinal deformity, and there is growth retardation and possibly genu valgum in the second or third year of life. A patient with Morquio's syndrome is likely to die at an early age. Other signs and symptoms of the disease may include:

Life span: some can die as early as 2 or 3 and some can live up to 60 or 70 years old.


The treatment for Morquio's syndrome consists of prenatal identification and of enzyme replacement therapy. On 12 February 2014, the U.S. Food and Drug Administration approved the drug elosulfase alfa (Vimizim) treating the disease.[6]

See also[edit]


  1. ^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
  2. ^ Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B (May 2008). "Morquio syndrome: Diagnosis in an adult". Joint Bone Spine 75 (4): 495–8. doi:10.1016/j.jbspin.2007.07.021. PMID 18456538. 
  3. ^ synd/2108 at Who Named It?
  4. ^ Morquio, L. (1929). "Sur une forme de dystrophie osseuse familiale". Archives de médecine des infants (Paris) 32: 129–135. ISSN 0365-4311. 
  5. ^ Brailsford, J. F. (1929). "Chondro-osteo-dystrophy: Roentgenographic & clinical features of a child with dislocation of vertebrae". American Journal of Surgery (New York) 7 (3): 404–410. doi:10.1016/S0002-9610(29)90496-7. 
  6. ^

External links[edit]