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Complications Of Hunter Syndrome

Hunter syndrome is a rare hereditary condition characterized by malfunction or absence of enzyme iduronate 2-sulfatase. This enzyme’s main role is to break down certain complex molecules. Due to its absence or malfunctioning, the molecules accumulate in the body. It then interferes with one’s developmental processes, mental or physical and organ function. It develops more in boys than girls. Its symptoms include an enlarged head, thick lips, hoarse voice, chronic diarrhea, distended abdomen, developmental delays such as late talking or walking and many more. It cannot be cured. However, its symptoms and complications can be managed.(1)

Complications Of Hunter Syndrome

Complications Of Hunter Syndrome

Hunter syndrome is a rare genetic disorder in which enzyme iduronate 2-sulfatase is either missing or does not function properly. Due to lack of this enzyme, long chain of sugar molecules cannot be broken down in simple molecules. These complex molecules build up in the body resulting in damage to various functions, thereby causing various health ailments.

Hunter syndrome may lead to a number of complications that depend on its types and severity. It can affect vital organs such as lungs, heart and brain, even joints, connective tissue, and nervous tissue. These complications are-

Cardiac Complications – the buildup of complex molecules in the heart tissues cause thickening of the heart tissues. It may lead to the interference with the closing of heart valves and sometimes narrowing of the aorta and other blood vessels. Improper closure of heart valves causes an insufficient supply of blood. It may result in heart failure. Narrowing of aorta and blood vessels may result in a rise in blood pressure.

Respiratory Complications- accumulation of complex molecules causes thickening of tongue, gums, nasal pipes and windpipe. It may interrupt the normal process of breathing. The child becomes susceptible to catch chronic sinus and ear infections, pneumonia and respiratory infections. It may also lead to frequent blockage of airway obstruction during sleep resulting in interrupted breathing in sleep, which is called sleep apnea.(1)

Brain And Nervous System Complications- a variety of neurological complications may develop due to Hunter syndrome.

Excess fluid may accumulate in the brain of children with Hunter syndrome. It increases the pressure of the fluids in the brain causing symptoms such as severe headaches, visual problems and less development of the mind.

The membranes around the spinal cord may get thickened and scarred that buildup of pressure and compression on the spinal cord. It results in weakness in legs and less physical activity preferred by affected children.

Carpal tunnel syndrome may develop nerve compression due to building up of complex sugar molecules in the tissues and deformities developed in the bones.

Skeletal And Connective Tissue Complications-

The stored complex sugar molecules in connective tissues affect the normal growth of bones, ligaments, and joints. It disturbs the developmental growth of the child that may lead to pain, physical deformities and inabilities to move or walk. The child may suffer from stiffness and pain of joints due to swelling of connective tissues and other abnormalities.

Some children may develop many abnormalities in their bone which is called dysostosis multiplex. It leads to irregular shapes of vertebrae, ribs, spine, arms, fingers, pelvic bone and legs. The affected child may be short in height and sometimes abnormally short.

Some children may develop a hernia. A hernia is a condition when the soft tissues of the intestine poke into the abdomen through a weak spot or tear. Enlarged liver and spleen may also cause hernia by a rise in pressure in the abdomen.(1)


Hunter syndrome is a rare genetic disorder marked by a deficiency of a certain enzyme that leads to building up of complex molecules in the body. It can cause complications such as narrowing of the aorta, heart failure, hernia, stiffened joints, breathing difficulties, respiratory infections, mental disabilities, and many more. These complications can be managed with modern medicines.


Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:January 12, 2024

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