Morquio Syndrome

From Freak the Mighty

What is Morquio Syndrome?

Morquio is a rare syndrome inherited birth that is estimated to occur in one of every 200,000 births. The disease is not visible at birth; symptoms usually begin between ages 1 and 3. Which the the body is missing or does not have enough of a substance needed to break down long chains of sugar.

What are the causes of Morquio Syndrome?

Morquio syndrome is an autosomal recessive trait, which means both parents must carry the gene that causes Morquio for a child to have this disorder.

What are the symptoms of Morquio?

Bell-shaped chest with ribs flared out at the bottom. Knock-knees (joints that are very easy to bend in unusual positions, such as being able to bend the knees behind the head; sometimes called double-jointed.) Large head. Possible heart and vision problems. Widely-spaced teeth.

Jacob Randall's Life Story

This is a story about Jacob Randall. September 5, 2001 Jacob Randall was born into this world. The doctors told the mother a few hours after his birth that he had a sacral dimple. He told her it was something normal, but that it should be examined further. When the results came back normal revealing no hole to his spine and no interference with his spinal cord, there was a tremendous sigh of relief....until, the dreaded word that they never wanted hear was heard, "HOWEVER".... But because they began to relize nothing out of the ordinary about Jake a few months later as he began growing up she again began the tireless months spent at doctors' offices, sleepless nights, researching mucopolysaccharidoses (MPS) disorders, analyzing, guessing and questioning. It all stopped on one very still day in August 2003. Dr. Pai, from the Medical University of South Carolina, called and he said," Renee, we have the test results back from Jake's skin biopsy, he does have Morquio syndrome (MPS-IV type A)." We had researched this one, it's not possible, I thought to myself. Jake doesn't have vision problems, he doesn't have hearing problems, his heart is OK, his kidneys, his liver, everything was Ok, how can this be true? He explained, "This is a progressive disorder, these symptoms don't happen's going to be OK, this one is not the most severe." Dr. Pai uttered compassionately.Children with Morquio syndrome have severe skeletal dysplasia, bone deformities, corneal clouding, conductive or nerve deafness, severe episodes of vomiting, heart disease which can ultimately lead to congenital heart failure early in their second and third decades of life. Essentially, he may have a shortened life span. Typically a child with Morquio is in a wheelchair by the age of 10. There are many challenges for people with Morquio, however, their brain will always be able to function normally. I said to myself, "Jake can still be and do anything, even if he can't walk.”
Big image

How is morquio syndrome caused?

Morquio is a recessive inherited disease. That means both of the parents must have a defective gene in order for there to be a risk of passing Morquio on to their children.

How do you treat morquio syndrome?

Symptoms are treated as they occur. A spinal fusion may prevent permanent spinal cord injury in people whose neck bones are underdeveloped.


Of Phidalphia, The Childrens's Hospitle. "Morquio Syndrome." Morquio Syndrome. The Children's Hospital of Philadelphia, Aug. 2011. Web.

Engler, Chad H. "Morquio Syndrome: MedlinePlus Medical Encyclopedia."U.S National Library of Medicine. U.S. National Library of Medicine, 3 May 2016. Web. 05 May 2016.