Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn’t have enough of a substance needed to break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).
The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS IV.
MPS I H (Hurler syndrome)
MPS II, Hunter syndrome
MPS III (Sanfilippo syndrome)
MPS I S (Scheie syndrome)
Mucopolysaccharidosis type IVA; Galactosamine-6-sulfatase deficiency; Mucopolysaccharidosis type IVB; Beta galactosidase deficiency; MPS IV
Morquio syndrome is an
There are two forms of Morquio syndrome: Type A and Type B.
- Persons with Type A do not have a substance (
enzyme) called galactosamine-6-sulfatase.
- Persons with Type B do not produce enough of an enzyme called beta-galactosidase.
The body needs these enzymes to break down a long strand of sugar molecules called the keratan sulfate sugar chain. In both types, abnormally large amounts of glycosaminoglycans build up in the body, which can damage organs.
The syndrome is estimated to occur in 1 of every 200,000 births. Symptoms usually start between ages 1 and 3. A family history of the syndrome raises one’s risk for the condition.
- Abnormal development of bones, including the spine
- Bell-shaped chest with ribs flared out at the bottom
- Coarse facial features
- Large head (
macrocephaly) Short staturewith a particularly short trunk Widely spaced teeth
Exams and Tests
The doctor will perform a physical examination. Examination and testing may reveal:
Abnormal curvature of the spine (kyphoscoliosis)
- Heart murmur (
aortic regurgitation) Inguinal hernia Liver enlargement
- Loss of nerve function below the neck
- Short stature (especially short trunk)
Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can’t determine the specific form of MPS.
Other tests may include:
- Genetic testing
Hearing test Slit-lampeye exam
- Skin fibroblast culture
X-raysof the long bones, ribs, and spine
Persons with Morquio syndrome should have MRI of the lower skull and upper neck to determine if the upper vertebrae are underdeveloped.
There is no specific treatment for Morquio syndrome. Researchers are currently testing a possible treatment involving enzyme replacement.
Symptoms are treated as they occur. A spinal fusion may prevent permanent spinal cord injury in persons whose neck bones are underdeveloped.
National MPS Society —
Cognitive (thinking) function is usually normal in patients with Morquio syndrome.
Bone problems can lead to significant complications. For example, the small bones at the top of the neck may slip and damage the spinal cord, causing paralysis. Surgery to correct such problems should be done if possible.
Heart (cardiac) complications may lead to death.
- Breathing problems
- Spinal cord damage and possible paralysis
- Vision problems
- Walking problems related to abnormal curvature of the spine and other bone problems
When to Contact a Medical Professional
Call your health care provider if symptoms of Morquio syndrome occur.
Genetic counseling is recommended for prospective parents with a family history of Morquio syndrome. Counseling is also recommended for families who have a child with Morquio syndrome to help them understand the condition and possible treatments. Prenatal testing is available.