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

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.

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.


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
References in periodicals archive ?
Dr Santra explains: "We now know a lot more about Morquio Syndrome than we did 20 years ago so we are better at managing it.
Patients with Morquio syndrome usually can be clinically distinguished from patients with other forms of MPS in that their intelligence is unimpaired, in contrast with other forms of MPS.
Nine-year-old Gracie Mellalieu is one of just five people in Wales to be diagnosed with Morquio Syndrome and for the last three years has been trialling the PS200,000 a year drug Vimizim, which her family claim has changed her life.
Patients with Morquio syndrome A and lysosomal acid lipase (LAL) deficiency are first in line to benefit from the emergence of novel treatments, with the respective launches of Vimizim (BioMarin's elosulfase alfa) and Kanuma (Alexion/Synageva's sebelipase alfa) in 2014 and 2015 respectively.
And Jibreel, from Stoke-on-Trent, Staffordshire, says it was his condition - Morquio Syndrome - that spurred him on.
Jamie had been born with Morquio syndrome, a rare hereditary disorder of bone development that results in severe malformation of the skeleton.
Beckwith syndrome, Morquio syndrome and Down syndrome are among those that may exhibit macroglossia.
com/research/k78r8l/biomarins_galns) has announced the addition of the "BioMarin's GALNS - Enzyme replacement therapy for Morquio Syndrome A" report to their offering.
Eight-year-old Gracie Mellalieu is one of just five people in Wales who suffer from the debilitating condition Morquio Syndrome - a life-limiting, inherited disease of the metabolism that affects just one in every 250,000 people.
Adika was diagnosed with Morquio Syndrome when she was 16 months old and, after struggling for some time to walk, she was confined to a wheelchair last year after her illness prevented her skeleton from forming properly.
Individuals with Morquio syndrome have a short stature, (Ian is 37 1/2 inches), trunk, and neck; corneal clouds, widely spaced and thinly-enameled teeth, curvature of the spine, knock knees, liver enlargement, the need for ear plugs for drainage, and hearing aids.
People born with Morquio Syndrome do not produce enough enzymes to break down materials the body cannot use, resulting in enzymes building up in tissues, bones and organs.