Morquio Syndrome

Morquio syndrome is also technically called as mucopolysaccharidosis IV. This is a rare hereditary disorder which affects the development of intracatilaginous bone. The condition results in serious deformation of skeleton, especially the long bones and spine as well as causes dwarfing. The disorder is usually detected within the first two years of affected child’s life. It remains progressive until the growth process of bones ceases which is usually during late adolescence. Back deformity due to Morquio syndrome is a common occurrence while spine is often noticed to be wedge shape and flat. In case if the deformity of back is serious, compression of spinal cord may be noticed.

Thigh bone may also be malformed and small which may sometimes cause hip dislocation. Such irregularity with the thigh bone may also cause the paired bones to develop irregularly and knock-knees may be recorded. Individuals affected with this condition have standard life expectancy. There are two forms of Morquio syndrome recognized in the medical industry which are named as Type A and Type B.

Morquio Syndrome Type A

In Type A of mucopolysaccharidosis IV Galactosamine-6-sulfatase deficiency is recorded. This is an enzyme that causes KS or Keratan Sulfate to anomalously degrade with GAG or Glycosaminoglycan accumulation on body tissues. Keratan Sulfate is egested in high quantity through urine.

Morquio Syndrome Type B

In Type B of Morquio syndrome beta galactosidase deficiency is recorded. This is milder when compared with Type A of the condition.

Morquio Syndrome Symptoms

There are some symptoms recorded in case or Morquio syndrome which are as follows:

• Irregular heart development
• Anomalous development of skeleton
• Hypermobile joints (or joints that move to anomalously greater range)
• Bigger fingers
• Known knees
• Flared ribs or chest which appears to be in bell shape
• Gaps between teeth making the appear widely spaced
• Spinal cord compression and dwarfing
• Heart enlargement
• Cardiac murmur or murmur of heart
• Height measuring below average for certain age group

At birth child affected with the condition may appear healthy and normal. However, there may be nondescript spinal deformity and growth process may be anomalous. Though the life expectancy of such individuals is said to be normal there are also records of affected individual dying earlier than the anticipated age.  There are also some additional symptoms which may be recorded in case of Morquio syndrome which are:

• Flat vertebrae causing short neck and shorter build
• Scoliosis or kyphosis of moderate level
• Mild level of ‘pigeon chest’ also technically known as Pectus Carinatum
• Odontoid hypoplasia or atlanto axial instability may be related to myelopathy causing gradual loss of ability to walk
• Dsyplatic hip
• Large and unstable knees
• Laxity of joints
• Bigger elbows as well as wrist
• Flatter feet
• Combined abnormalities may cause the affected individual to waddle like duck
• Protrusion of the mandibles
• Hypoplasia of the mid-face
• Thin layer of white substance coating the crown of teeth
• Hepatosplenomegaly of mild level

Morquio Syndrome – diagnosis

There are certain factors that your doctor will consider while diagnosing you for the condition. Some of these are –

• Cornea appearing cloudy
• Kyphoscoliosis or anomalous curve of the spine
• Cardiac murmur or aortic regurgitation commonly called ‘heart murmur’
• Enlargement of liver
• Shorter stature especially the trunk
• Inguinal hernia
• Affected functioning of nerves below the neck.

The first test often suggested for suspected patient is urine evaluation. These aforementioned tests will indicate surplus mucopolysaccharides; but specific form of MPS cannot be determined which is why other tests may be suggested:

• Blood culture tests
• Genetic tests
• Echocardiography
• Test for hearing loss
• Slit lamp eye testing
• Skin fibroblast evelaution
• x-ray to detect longer bones, spine as well as ribs

Patient undergoing diagnosis for this disorder should also consider going for MRI tests of upper neck as well as lower skull to determine whether upper vertebrae has developed anomalously.

Treatment for Morquio syndrome

Genetic counseling is recommended for parents with history of Morquio syndrome in the family as it is a hereditary disorder. Medical science experts are working on enzyme replacement therapy to detect whether it is efficacious. Unfortunately there is not treatment available that could reverse the disorder. Specific therapies are suggested for dealing with physical irregularities. Gait can be improved through osteotomy which can help by rectifying the alignment of legs. Spinal fusion will help in preventing aggravation of spinal deformities, damages to spinal cord and related death. Contracture can be prevented by handling the child properly and correctly positioning the child. This would also enhance child’s breathing as well as avoid subluxation. It is better to enroll with support groups as they educate the child as well as the parents about the disease and how the attitude should be towards the affected child.

If any couple is conceiving a child then genetic counseling and examinations are suggested, especially if family history of Morquio syndrome is recorded. This would help in reducing the impact of the condition. Counseling is also recommended for children who are already affected with Morquio syndrome.

Morquio Syndrome Pictures