What Is The Prognosis For Hunter Syndrome?

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. In this condition, the body is unable to break down complex sugar that plays an important role in the formation of skin, tendons, bones and other tissues in the body. It gets deposited in various parts and progressively damages them. It is passed in families from generation to generation. Its symptoms include an enlarged head, thick nose and lips, delayed development, hoarse voice, joint pain, breathing problems, and many more. There is no cure known for this disease. It is mild or severe in nature and the affected child dies in 10-20 years in severe cases. Genetic counseling is recommended in the families who have a history of this disease as prevention.

What Is The Prognosis For Hunter Syndrome?

The outlook or prognosis for Hunter syndrome depends on the severity of the disease. It can be a mild or severe type. The mild form of this disease has a late onset. In this form, the affected children may reach puberty and adulthood. They may have their own children. Their mental and physical abilities are less deteriorated. They may still have heart disease and breathing problems until they are alive. They may survive from 20 to 60 years. (2)

In severe form of Hunter syndrome, children rarely reach adulthood. The disease in this form has an early onset. It may interfere with the functioning of the brain and the brain will cease to work soon. They may be admitted to hospital and given special care to ease their problems. Such children do not live long. They may survive up to 10-20 years.

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 different health ailments.

Hunter syndrome is one of the diseases belonging to mucopolysaccharides (MPS). It is also known as MPS II. It affects boys more than girls. Its symptoms are not present from birth. Its symptoms start after 2 to 4 years of age as harmful complex molecules may take some time to accumulate in the body. (2)

What Leads To Hunter Syndrome?

Hunter syndrome is an inherited disorder. The defective genes are passed on to the children through their mother. If defective genes are passed from the father to the children, the children will develop this disease only when defective genes are passed from the mother.

The defective genes can cause accumulation of the complex sugar molecules in the different parts of the body that may result in permanent damage to these parts. (1)

How Do You Know If You Have Hunter Syndrome?

The symptoms of hunter syndrome can be mild or severe. These symptoms do not appear soon after birth. It starts after 2 to 4 years when enough harmful complex sugar molecules get is deposited to disturb the basic functions of the body. These symptoms include-

  • Enlargement of the head
  • Thickened lips
  • Nose grows broad and nostrils become flared
  • The tongue becomes thickened and protruded
  • A deep and hoarse voice
  • Chronic diarrhea
  • Enlarged abdomen due to the enlargement of
  • Abnormal shape and size of bones leading to skeletal irregularities
  • Stiffness in the joints
  • Stunted growth
  • Delay in development or achieving milestones like walking or talking
  • Abnormal growths on the skin which appears like pebbles. (1)


Hunter syndrome is a rare hereditary condition characterized by malfunction or absence of enzyme iduronate 2-sulfatase. Its prognosis is different in different types of disease. In mild form, the child may survive from 20-60 years. In severe cases, he may live 10-20 years only.


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