Morquio syndrome

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Mor·qui·o syn·drome

(mōr'kyō), [MIM*253000, MIM*253010]
an error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterized by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IVA mucopolysaccharidosis is due to an absence of galactose-1-sulfatase and is caused by mutation in the N-acetylgalactosamine-6-sulfate sulfatase gene (GALNS) on 16q, whereas type IVB is due to a deficiency of a β-galactosidase, and is caused by mutation in β-galactosidase gene (GLB1) on 3p.
Synonym(s): Brailsford-Morquio disease, Morquio disease, Morquio-Ullrich disease, mucopolysaccharidosis type IVA, IVB
Farlex Partner Medical Dictionary © Farlex 2012

Morquio syndrome

A type of mucopolysaccharidosis (MPS IV) characterized by the presence of keratan sulfate in the urine, short stature due to skeletal abormalities, stiff joints, flaccid ligaments, hearing loss, enlargement of the liver, and corneal clouding.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

Morquio syndrome

Mucopolysaccharidosis IV Metabolic disease An AR mucopolysaccharide storage disease characterized by 6-sulfo-N-acetylhexosaminide sulfatase deficiency and excretion of keratosulfate in urine Clinical Coarse facies, short stature, and skeletal, joint defects; onset after first yr, life expectancy 20+ yrs; may be mentally normal. See Mucopolysaccharidosis.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.


Louis, Uruguayan physician, 1867-1935.
Brailsford-Morquio disease - Synonym(s): Morquio syndrome
Morquio disease - Synonym(s): Morquio syndrome
Morquio sign
Morquio syndrome - an error of mucopolysaccharide metabolism characterized by severe skeletal defects. Synonym(s): Brailsford-Morquio disease; Morquio disease; Morquio-Ullrich disease; type IV A, B mucopolysaccharidosis
Morquio-Ullrich disease - Synonym(s): Morquio syndrome
Medical Eponyms © Farlex 2012
References in periodicals archive ?
"We were even investigated for child neglect because Jack hadn't put on any weight." When Jack was three, Julie fell pregnant with Lewis and the family faced the agonising wait to find out if he also suffered from Morquio syndrome.
Morquio Syndrome, a degenerative condition affecting major organ systems, can substantially limit quality of life and sufferers rarely live beyond the second or third decade.
And this time it's Dom, who has muscular dystrophy, and Enola, who has a growthrestricting condition called Morquio syndrome, who prepare to find their one true pup.
Morquio syndrome, a condition which starts to appear in the early years of a child's life, leads to oddlyshaped bones, knock knees, spine curvature and irregular chest growth.
Nine-year-old Gracie suffers from Morquio Syndrome, a life-limiting, inherited disease of the metabolism that affects just one in every 250,000 people and just five in Wales.
a Gracie Mellalieu has an extremely rare condition, which affects only 3,000 people worldwide, called Morquio syndrome - a metabolism disease which means she cannot produce enough enzymes to break down materials the body cannot use, which leads to more serious problems and constant joint pains.
More is known about Morquio Syndrome than previously, but there is still a long way to go with treatment.
Cervical fixation at the occiput-to-C2 level is frequently needed in these patients and in fact profilactic occipito-cevical fusion has been strongly advocated for patients with Morquio syndrome independent of neurological symptoms [1, 5].
The incidence of MPS IV (Morquio-Brailsford syndrome, more commonly known as Morquio syndrome) varies with geographic location - about 1 in every 75 000 births in Northern Ireland for Morquio syndrome type A, for example.
Morquio syndrome type A, or mucopolysaccharidosis IVA (MPS-IVA), [4] is an autosomal recessive disorder that causes a deficiency of lysosomal N-acetylgalactosamine-6-sulfate sulfatase (GALNS) (EC activity (1).