Morquio Syndrome Picture

Morquio Syndrome: Causes, Picture, Symptoms and Treatment

Morquio syndrome is the birth defect, occurring rarely. It affects only one child in every 2 lakh birth. You cannot suspect the problem in children at birth. The child appears normal and shows no visible signs of the issue until they become one year old. So, the symptoms begin at the age of one and three. It is a progressive disease that has no cure. Therefore, no known cure can overcome the health problem. The symptoms associated with the problem get worse as the child grows. The rare disorder causes physical abnormalities and other physical complications. Do you want to know more about the problem? Then, read ahead to get comprehensive information about the genetic disorder. It will help you take the necessary steps to deal with the health problem properly.

What Is Morquio Syndrome?

The condition described simultaneously and independently by Luis Morquio and James Fredrick Brailsford explains about the genetic condition affecting a child’s body. The explanation came in 1929, which describes in detail the problems caused by the genetic disorder. Morquio an Uruguayan physician and Brailsford, a radiographer from Birmingham, England explains the problem affecting a child’s organs, spine, bones, and physical abilities. Morquio syndrome cannot produce or miss the production of the specific enzymes. The enzymes are responsible for breaking down the sugar chain that your body naturally produces. So, the condition can cause the sugar chain to accumulate in cells, blood, tendons, and ligaments in the child’s body. Therefore, it can damage the organs and skeleton of the affected children.

morquio syndrome

The inherited metabolic syndrome is a part of a group of diseases known as MPS (mucopolysaccharidosis). The problem is also referred to as MPS IV. The child suffering from the problem cannot break down the large sugar chains known as glycosaminoglycans. The sugar chains were formerly known as mucopolysaccharides. Due to the inability of the sugar chains to break, it starts accumulating in the body. The accumulated molecules can interfere with the normal cell function can trigger severe physical deformities. It also causes a health problem that can worsen over time.

Types Of Morquio Syndrome

Gene mutation can result in the syndrome. Specific genes are responsible for providing your body the instruction to produce certain enzymes. These enzymes can break down the large sugar molecules known as GAGs (glycosaminoglycans). GAGs were earlier known as mucopolysaccharides. Therefore, the condition derives its name from the earlier name of the sugar molecules. Depending on the gene mutation, you can classify the syndrome into two types. So, the classification is:


Morquio syndrome occurring due to the mutation in the GALNS gene can result in MPS IV type A. It is also referred to as MPS IVA.


The mutation occurring due to the GLB1 gene can result in MPS IV type B. It is also known as MPS IVB.

You may not different signs or symptoms for both MPS IV type A and B. So, people affected by the mutation in both GALNS and GLB1 suffer from the same symptoms.

Signs And Symptoms Associated With Morquio Syndrome

The children suffering from morquio syndrome never shows the signs during birth. The symptoms start to appear around the child’s first birthday. The signs may mostly vary from one child to another. But, the general signs include:

Short Stature

The genetic disorder can cause restricted growth or short stature. So, the child affected by it cannot grow as tall as normal people. The growth of the affected person remains below the third percentile. In most cases, the growth rate indicates the overall health of the person. Children who fail to reach the fifth percentile by the age of five can indicate SGA (small for gestational age). So, the pediatrician looks for the signs that indicate the child has problems with growth.

Curved Spine

Curved Spine

Your backbone or spine is stacked along with discs with vertebrae (small bones). It is placed one on top of the other. In normal people, the spine has gentle curves when viewed from the side. The curves can absorb stress effectively happening due to gravity and body movement. But, the normal spine looks straight when viewed from the back. It looks like a straight rod running down the middle of your back. When abnormalities occur, it can cause an exaggeration in certain areas or misalignment of the spine. In most cases, children suffering from the syndrome can suffer from spinal problems like kyphosis or scoliosis.

Hypermobile Joints

As the name suggests, the condition results in flexible joints. The joints remain flexible compared to normal. So, people affected by the issue can extend their joints easily without any pain. Normal people cannot extend it beyond a certain range. The hypermobility of the joints occurs due to loose tissues, mainly the joint capsules and ligaments holding it. Weak muscles around the affected person’s joints can also contribute to the problem.

Knock Knees

Knock Knees

Knock knees is the problem accompanying the morquio syndrome. When the child suffers from the issue, it causes angular deformities at the knee. Due to the problem, the deformity causes the knee to point inward. In such cases, the standing child has knees touching together while the ankles stay apart.

Pectus Carinatum

Pectus Carinatum

It is another sign that indicates a child has MPS IV. Due to the genetic disorder, the child has an abnormal chest wall. It makes the chest to jut out. It is due to the unusual growth of the sternum cartilage (rib and breastbone). The bulging gives the chest the appearance of a bird. Therefore, the condition is also referred to as pigeon chest or pigeon breast.

Misshapen Arms And Legs

The morquio syndrome can cause deformities in the arms and legs of the affected children. So, it leads to differences in the shape of arms as well as legs. The legs may appear curved or one leg appears shorter than the other. In the case of arms, one looks shorter than the other or may completely miss one arm.

Widely Spaced Teeth

The children affected by the genetic problem have spaces between their teeth. It can form anywhere in the mouth. But, it becomes noticeable when you can see a wide space between the two upper front teeth. The gaps never disappear even when permanent teeth grow. So, you can see the noticeable gaps between the teeth of the children.

Spinal Problem

People affected by the syndrome face problems with the spine as well as the spinal cord. It causes difficulty while walking. The spinal issues can also contribute to breathing problems.

Liver Enlargement

It is one of the health complication arising due to the syndrome. It causes the liver to become larger than the normal size. The affected person can endure severe complication due to the enlarged liver. The medical term hepatomegaly refers to the enlarged liver.

Vision Problems

MPS IV can affect the cornea of the eye due to the accumulation of large sugar chain. The cornea is the clear covering of the eye that helps with the vision. Due to sugar chain accumulation, it becomes cloudy. So, you can suffer from vision loss.

Hearing Problems

The syndrome can affect the middle ear, leading to chronic disease. So, people suffering from the syndrome can experience mixed hearing loss. In some cases, affected individuals can suffer from SNHL (Sensorineural Hearing Loss). It occurs when you face problems in your sensory organ or the inner ear.

Heart Problems

Most of the people affected by MPS IV die due to heart-related complications. The abnormal heart valves or issues with the heart structure can cause distress. It affects the normal functioning of the organ leading to fatal complications.

The children affected by the syndrome appear normal at birth with normal intellectual growth. The growth deformity and other complication appear only by the second or third year. Morquio syndrome progresses over time. So, the symptoms can get worse as time passes. But, it does not affect the intellectual ability of the affected person.

Complications Due To Morquio Syndrome

The severity of the symptoms may vary from one person to another. The life expectancy of a person suffering from the syndrome depends entirely on the severity of the symptoms they suffer. Some children have severe symptoms. So, they survive only till late childhood or adolescence. Children with mild symptoms have a greater life expectancy as they live into their adulthood. But, problems like airway obstruction or spinal cord compression can affect the survival rate. It can play a major part in the death of people affected by morquio syndrome. Therefore, it is essential to seek medical help to manage the symptoms. It will help avoid fatal complications and provide relief.

Causes Of Morquio Syndrome

Morquio syndrome affects children due to the missing or insufficient production of an enzyme. The genes, GALNS and GLB1 are responsible for the production of the enzymes. The enzymes play an important role in breaking down the large sugar chains known as mucopolysaccharides. It helps in building your bones, corneas, cartilage, skin, and connective tissue. Your body needs to break down the sugar to flush it out of the body. But, the syndrome can affect the breaking down of the sugar chain. So, it results in sugar build up in the child’s blood cells and connective tissue. It results in experiencing progressive damage to the body. The severity of the problem depends on the levels of the enzyme present in the body. The fewer enzymes can lead to faster progression of symptoms associated with the syndrome. Some other disorders (for example, Hurler syndrome) can also exhibit a similar problem. So, it becomes difficult to break down the mucopolysaccharides. Such problems come under disorders referred to as MPS (mucopolysaccharidosis).

People At Risk Of Getting Affected By Morquio Syndrome

People At Risk Of Getting Affected By Morquio Syndrome

Morquio syndrome is inherited by children whose parents carry a copy of the mutant gene. So, the condition is passed down in families through the mutant gene of the ancestors. Your child can inherit the complication in an autosomal recessive pattern. It means the child has mutant copies of the gene in each cell. When you can carry a copy of the mutant gene, it does not show any signs of the condition. It is a problem for the child whose mother and father carry the mutant gene. Therefore, if you and your partner have the mutant gene, you need to consult the doctor before planning any pregnancies.

Diagnosing Morquio Syndrome

If you suspect growth problems in your child, you need to seek medical help. The pediatrician can perform certain tests to diagnose the condition. Therefore, your child needs to undergo the following tests:

Physical Assessment

The doctor first checks for growth. A child affected by the MPS IV syndrome has small stature. So, the child may never have normal growth. Depending on the physical assessment, the doctor orders for several tests to check the severity and issues suffered by the child due to the problem.

Blood Tests To Detect Enzyme Activity

The body produces enzymes, which regulates several chemical activity or reactions in the body. The blood enzyme tests measure the levels of certain enzymes in the affected person. So, it can confirm the diagnosis and assess the damage caused by it on the vital organs (like liver and heart health).

Urine Tests

The urine tests can also look at the enzyme reactions or activity happening in the affected person’s body. It helps provide comprehensive information about the problem suffered.

Genetic Testing

It is the medical test that helps identify the genes, protein or chromosome changes. It is suggested for parents who have the missing gene responsible for MPS IV syndrome. The test can confirm or rule out the genetic condition. It also helps determine the possibility of passing on or developing the genetic disorder in the future.

Imaging Tests

The sophisticated imaging tests detect the damage the syndrome causes on the body. The images of the specific organs can help understand the severity of the condition. So, the doctor can order for X-rays to learn about the problems with the spine or joints in the body. Other sophisticated tests like MRI can offer a clear picture of the affected area.


People suffering from morquio syndrome can suffer heart ailments. Therefore, an echocardiogram can check the abnormalities of the organ.

Hearing Tests And Vision Test

Children suffering from the syndrome can experience vision problems and trouble hearing. Therefore, the doctor orders for the respective tests to detect the severity of the issue.

Skin Fibroblast Culture

It is the test used to determine the functioning of the skin. During the procedure, your doctor removes a small piece of skin for testing using a short surgical procedure. The testing of the skin sample can show the functioning of collagen and other skin substances. Therefore, it helps to detect any issue associated with the skin.

Treating Morquio Syndrome

You need to understand that MPS IV has no permanent cure. You can only improve the quality of life of the loved ones who suffer from the syndrome. The early intervention can offer more relief and make the affected person’s life easier. The treatment manages the symptoms suffered by the child as different body system can malfunction. Depending on the severity of the symptoms, the doctor can devise a treatment plan. Some people may show mild symptoms. So, they only require constant monitoring. While others suffer from worse symptoms, which needs a non-surgical or surgical treatment plan to address the respective issues. Remember, every child shows different signs, so the doctor determines the treatment on a case-by-case basis.

Care Team To Manage Signs Of Morquio Syndrome

You need to find the perfect team of doctors who can offer the best care for the child suffering from MPS IV. The specialist team must include the following doctors:

  • Cardiologist
  • Pulmonologist
  • Orthopedic
  • Clinical genetics

MPS IV condition progresses over time. Therefore, the medical need of the patients can change with the passing time. Careful monitoring can help detect the issues and find the perfect solution that promises the best care.

Enzyme Replacement Therapy (ERT)

ERT is one of the suggested treatment options for the condition. The treatment involves providing intravenous infusion to correct the deficiency of the enzymes triggering the problem. Therefore, it can balance the low levels of the enzymes resulting in MPS IV. The modified version of the enzymes can break down the sugar chain accumulation in the body. So, it compensates for the missing or insufficient enzyme. In most cases, patients need to receive the ERT for one to two hours.

Invasive Surgery

The children suffering from MPS IV can see several physical deformities. Some of the deformities can affect the quality of life. Children can experience abnormal movement in the upper bones of their neck or base of the skull. So, it can lead to spinal cord damage or other problems. Early detection is necessary to handle the physical problems. Therefore, doctors can suggest the following invasive procedure to offer relief:

  • Hip reconstruction or replacement
  • Cervical decompression and fusion
  • Femoral osteotomy
  • Tibial osteotomy

The surgical intervention is necessary when the child suffers from severe issues. Therefore, the child requires careful monitoring throughout the lifetime.

Physical Therapy

Some children with morquio syndrome can suffer from musculoskeletal manifestation. Therefore, they need assistance from physical therapists to deal with the problems. It is offered along with the pain medication to deal with the problem better. Physical therapy may not cure the disease. But, it can impact positive changes in functional abilities of the child. So, the child can perform independently and participate in age-appropriate activities.

Occupational Therapy

An occupational therapist can help the child with improving their fine motor and oral motor control. The professionals can offer training to deal with everyday activities and live in society. As age progresses, many affected people may find it difficult to move properly. Therefore, the occupational therapist can help with attaining freedom of movement 9using assistive devices).

When you have a loved one suffering from MPS IV syndrome, you need to monitor them carefully. It is important to anticipate any issues or complication that can arise due to the problems. You can deal with the problem before they become severe complications. So, you need to handle the problems as soon as possible.


People affected by Morquio syndrome need lifelong care for handling physical issues. Therefore, it is essential to find the best team of doctors who can provide ample care to manage the symptoms effectively. Caring for a child with MPS IV syndrome can put stress on you. Therefore, you need to go for counseling to deal with it better. With the advance in the medical field, you can expect a cure for the syndrome in the near future.

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