Morquio syndrome or Morquio A is a genetic disease. It is a recessive genetic disorder. Hence, a child suffering from the condition would need both the parents to have a defective gene. Classified as a lysosomal storage disorder, Morquio syndrome leads to a person’s inability to break down the glycosaminoglycans molecules. Owing to this, children develop skeletal abnormalities, heart disease, hearing loss, breathing difficulty, loss of vision and are also at risk of premature death. Here are some Morquio syndrome facts.
The condition was first identified by Dr. Luis Morquio. In 1929, Dr. Morquio described the condition and that also lead to the naming of the syndrome. Around the same time, an English doctor called James Frederick Brailsford also independently described the disease.
No Known Cure
There could be a family history of the condition or the immediate parents and grandparents may not have the condition and yet an offspring may develop it. There is nothing that helps the prediction of whether or not the defective gene would affect a certain generation in a family.
Morquio syndrome cannot be diagnosed at the time of birth. It usually takes two to three years for the symptoms to become obvious. In most cases, the kids need to start running for the symptoms to be diagnosable. When a child’s body is fully formed and one should be able to sit, stand, run and lie down without any problems, kids with the problem with have odd shaped bones, there would be a quaint curvature of the spine, the chest growth would be irregular and they would have knock knees. In some rare cases, the symptoms have been observed in kids aged as young as four to six months.
Morquio syndrome is an incurable, chronic and progressive disease. It would worsen over time and barring a few exercises, therapy and some prescribed medicines, there are no remedies. What is recommended however is an early diagnosis so the condition can be prevented from getting worse. Today, there are enzyme replacement therapies that can slow down the progression or worsening of the condition.
Morquio syndrome has several side effects. It could lead to the growth of a larger than usual head, the teeth of the kids could be far too spaced, the skeletal development can be quite unnatural and facial features would be abnormal as well. Over time, kids with Morquio syndrome may have inguinal hernia, cardiac murmurs and an enlarged liver.