Morquio Syndrome – Causes, Symptoms, Pictures, Treatment

August 10, 20130 Comments

Glycosaminoglycans are large sugar molecules present in our body. They are largely present in mucus, synovial fluid around the joints, and extracellular matrix and everywhere on the body. It is also called muco-polysaccharides. These sugar molecules attract protein molecules forming proteoglycans. These are long chain of building blocks occurring in our body which is often broken down for active metabolism of our body.

Some enzymes are required for breaking these long chains of sugar molecules into much simpler substances. However in some people enzymes that are necessary for breaking down sugar molecules are missing resulting in Morquio syndrome. This disorder is inherited from the parents and was first discovered by Luis Morquio in 1929. Hence this disorder is described as Morquio Syndrome.


Morquio Syndrome is an inherited disorder and autosomal recessive trait. It means that both father and mother should have defective genes in their system to pass it on to the child for getting this disease. This disorder is caused by lack of certain enzymes needed for breaking up of polysaccharides called glycosaminoglycans.

Two types of Morquio Syndrome are recognized. In the type A disorder the individual will not have an enzyme galactosamine 6 sulfatase. In the type B the person will not have beta galactosidase enzyme. Since the sugar molecules are not broken to form simple molecules, it leads to building up of large volumes of sugar in vital body parts like brain or heart which will eventually damage the organs.


Morquio Syndrome develops one in every 2 million children and the initial symptoms are observed as early as 1-3 years. The children affected with this disorder will have abnormal bone development and abnormal spine. Their chest will not be flat and bell shaped and the ribs column will be flaring out at the bottom.

Facial features will be coarse with large head. Their trunk will be short and will have hypermobile joints. There will be abnormal heart development with enlarged size. Skull bone (macrocephaly) will be larger than usual size and they will have short structure (dwarfism). Their fingers are large due to abnormal bone development.

Tests :

The doctor can identify Morquio Syndrome by physical examination of the child after birth. He will look for the above symptoms. He will check for murmur sound of heart, cloudy cornea and curvature of spine. He may order for blood, urine test apart from echocardiogram (heart) and X-rays of ribs and bones. Urine culture will show evidence for presence of large volumes of polysaccharides.

Treatment :

No treatment is available for Morquio syndrome since it is inherited by birth. Some of the symptoms can be repaired and corrected through surgery. Breathing problem, heart murmur and vision problems (if any) can be corrected by surgery. Enzyme replacement therapy can be done in some cases for reducing further symptoms. Often, their cognitive ability will be normal like others.

Images, Pics, Photos and Pictures of Morquio Syndrome :

Morquio Syndrome Morquio Syndrome Morquio Syndrome

Prevention :

People who are born with Morquio syndrome should be counseled for making them understand the complications involved in having a child.

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