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

(môr′kē-ō′)
n.
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.

Morquio,

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 ?
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.
People with Morquio syndrome typically have a life expectancy of around 30 years.
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.
A 31 year old man, with Morquio syndrome presented at our Orthopaedic Department with the pain on the hips, limiting his walking ability to maximally 10 minutes.
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.
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 3.
Aparicio, who was born with Morquio Syndrome - a form of dwarfism - stands 3 feet 7 inches tall.
A 20-year-old man with Morquio syndrome (Type IV mucopolysaccharidosis) had had a tracheostomy only possible via the cricothyroid membrane to bypass obstruction at the laryngeal inlet caused by infiltration of glycosaminoglycan.
A debilitating genetic birth defect called Morquio syndrome, which affects muscle development, forced him and his sister to be homeschooled.
Their movie, Simon Birch, is the story of a dwarf boy who suffers from a rare disease called Morquio Syndrome.