Morquio Syndrome – Causes, Pictures, Symptoms And Treatment

The Morquio Syndrome is a genetic disease transmitted by both parents. The first case registered dates from 1929 in a child of Swedish descent. The Morquio Syndrome occurs in 1 of every 200.000 births. It is important to note that both parents must carry the gene and pass it on to their baby in order for the disorder to become deleterious. There are two known types of Morquio syndrome usually referred to as type A and type B. This classification is related to the enzyme called galactosamine-6-sulfatase which plays a paramount role inside our body and abnormal levels of these enzymes are associated with serious damaging of vital organs. Patients suffering from Type A Morquio Syndrome do not present this enzyme at all, while patients with type B Morquio syndrome have low levels of other similar enzyme called beta-galactosidase. If either one or both parents have a family history of the syndrome they should be aware of the fact that their children’s risk for having this condition is higher.

What Are the Symptoms Associated with Morquio Syndrome?

Symptoms that indicate the disease may start between ages 1 and 3. The bone system of patients suffering from Morquio syndrome will be severely affected. Children will generally have a short overall structure (particularly a short trunk) and macrocephaly (their head will be larger than the normal average) with irregular, coarse facial features. Their chest will be bell-shaped with protruding, flared out the bottom ribs. All bones generally develop abnormally. One of the most common detected feature is a longer than normal average spinal cord. Patients can also have hypermobile joints, large fingers and knock-knees. Their teeth are generally widely spaced. While the abnormal skeletal development is visible, internal symptoms include abnormal heart functions and particularly enlarged hearts and heart murmur. While patients with Morquio’s syndrome appear to be healthy at birth and in the first year of life, growth retardation, dwarfism or simply below average height for certain age will be easily observed beginning with 2 years old. Due to these multiple complications, the life span of patients suffering from Morquio’s syndrome is very short. They are expected to live up to 3 years old. However, there have been cases when patients lived up to 60 or 70 years old, but they most likely have also been affected by corneal clouding.

What Is the Most Efficient Treatment?

It should be stated from the very beginning that there is no cure for Morquio syndrome, mainly because it is a genetically inherited condition. The most helpful treatment would consist of prenatal identification. However, there are a number of corrective surgeries that can be done for the affected organs. This is the sort of condition that is treated as it keeps evolving. For instance, patients whose neck is underdeveloped can receive a spinal fusion that may prevent permanent cord injury. The heart, alongside with ears and eyes can also receive corrective surgeries. It is important to note that currently scientists are working on a project that involves an innovative treatment of enzyme replacement therapy. This would be life-saving since it directly fights against the root of the problem in the first place. Unfortunately, only time will tell if the therapy will have significant effects.

Further Testing

Since the disorder can be easily identified by investigating the symptoms mentioned above, many patients suffer complications of several vital organs. They can either have a very large heart or a very large liver and quite often they may lose the functions associated with the neck muscle. To decrease the fairly accelerate pace at which all these symptoms are evolving, many doctors will recommend regular blood culture, X-rays and hearing tests. The X-rays are particularly recommended to keep the bone structure under control since the bone system is directly affected by this disorder. The Morquio syndrome belongs to the group of diseases named mucopolysaccharidoses (abbreviated MPS). More specifically, it is also known as MPS IV. It is important to know that it can also cause other disorders such as the Hurler syndrome,the Scheie syndrome and the Hunter syndrome. All the following terms refer to Morquio syndrome, so if you accidentally find information about them, bear in mind that they refer to the same disorder: Beta galactosidase deficiency: MPS IV; Mucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency.

Other tests that might help obtain additional information on this disorder and might help the doctor prescribe proper medication to keep the disease from developing may include urine tests. Although these tests cannot determine the specific form of MPS, they clearly show extra mucopolysaccharides. Consider taking an echocardiogram, slit-lamp eye exams, skin fibroblact culture and genetic counseling. To determine if the upper vertebrae are underdeveloped, patients suffering from Morquio’s syndrome should have the MRI of the upper neck and lower skull performed. Don’t hesitate to contact support groups! The most well-known support group is the National MPS Society. You can contact them at It is also important to note that the cognitive or the thinking function is normal in almost all patients with Morquio syndrome.  This is why they should get sustained support and consideration. Unfortunately, due to their severe bone problems, significant complications will appear eventually. In order to prevent paralysis, which is very likely to affect patients with underdeveloped neck bones, corrective surgery may be taken into account wherever it is possible. People with Morquio syndrome usually die from cardiac (heart) complications. They will also experience breathing problems, repetitive heart failure, paralysis due to spinal cord damage, poor vision and walking problems due to abnormal spine curvature. Contact a doctor immediately if you observe any of the symptoms described above. Although there is nothing technically that can predict Morquio syndrome, genetic counseling is more than recommended to prospective parents who have a family history of Morquio syndrome. In addition to that, genetic counseling also addresses to couples who have a child diagnosed with Morquio syndrome in order to help them better understand their children’s condition and the importance of preventive treatment and surgery whenever it is possible.

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