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
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 ?
in 1974 identified the deficiency of enzyme N-acetyl-galactosamine-6-sulfatase causing intracellular accumulation of keratan sulfate responsible for Morquio's syndrome type IVA [1].
It is important to keep this differential in mind in patients presenting with Down syndrome, Klippel-Feil syndrome, Morquio's disease, multiple epiphyseal dysplasia, pseudoachondroplasia, achondroplasia, Larson syndrome, and chondrodystrophia calcificans.
The differential diagnosis of such presentation includes other platyspondylic spondyloepimetadysplasias (SMD), especially SMD-Kozlowski and Morquio's disease (mucopolysaccheroidosis IV).
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.
Anaesthetic considerations of adults with Morquio's syndrome-a case report.
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.
History: The presence of positive family history and short stature in other members of the family will suggest the presence of bone dysplasia, such as multiple epiphyseal dysplasia, multiple metaphyseal dysplasia, multiple enchondromatosis (Ollier's disease), multiple hereditary exostosis, Ellis Van Creveld syndrome [32], or Morquio's disease [33].
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.