Morquio syndrome

(redirected from Morquio's)

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 ?
Irvine teenager Alex has Morquio's Syndrome, an inherited disease of metabolism in which the body is missing, or doesn't have enough of, a substance needed to break down long chains of sugar molecules that are called glycosaminoglycans.
The central anterior beaking of Morquio's syndrome also differs from the antero-inferior beaking of Hurler's syndrome and other mucopolysaccharidoses.
A sensitive procedure for the diagnosis of N-acetylgalactosamine-6-sulphate sul phatase deficiency in classical Morquio's disease.
Meanwhile, nine-yearold Archie and sevenyear-old brother Isaac battle a rare hereditary form of dwarfism called Morquio's, as they come to the end of a drug trial that could stop the disease from progressing.
As a youngster, Dan was diagnosed with Morquio's Syndrome - a rare genetic disorder that allowed his organs to develop but stopped his skeleton growing.
Haemacure has also identified three other enzymes, used to treat Hunter's disease, Morquio's disease and Shindler's disease.
Jack and younger brother Lewis are one of the few pairs of brothers in the world to both suffer from Morquio's syndrome.
Danny Woodhouse, 16, was born with Morquio's Syndrome, which means his internal organs continue to grow but his skeleton doesn't.
Morquio's syndrome was also considered because it often has many of the same features.
Kevin, played by Kieran Culkin, younger brother of Macauley, was born with Morquio's Syndrome, a terminal illness which stops the body's growth.
He suffers from Morquio's Syndrome, his body failing to grow to accommodate his organs.
Based on Rodman Philbrick's novel for young adults ``Freak the Mighty,'' the film charts the nurturing relationship of two junior high outcasts - Kevin Dillon (Culkin), who suffers from the growth-inhibiting, degenerative Morquio's syndrome, and Maxwell Kane (Henson), a socially inhibited giant of a boy from a criminally dysfunctional home.