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Hunter's syndrome (Charles A. Hunter)

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Rare hereditary disorder characterised by dwarfism, a coarse facies, hepatosplenomegaly, digital contractures and mental retardation and deafness.

Speech and mental development are delayed, the child has frequent respiratory infections, and as the disease progresses a typical constellation of physical signs becomes evident: protuberant abdomen, claw hands, excessive hair growth, coarsening of the face with grotesque facial features; retarded growth, and behaviour problems.

The mental and physical defects are caused by a defect in the chemical breakdown of the mucopolysaccharides, carbohydrates essential in the development of the connective tissues, and the consequent accumulation of mucopolysaccharides in the body.

The disease affects almost exclusively males; cases in females are very rare but not unknown. It makes its first appearance during the first three years of life. An affected child may appear normal up to about 1 year of life. The visceral involvement is progressive and death by early adulthood is usual. Most patients die before age 15. Inheritance is autosomal X-linked, about 33 % of cases represent a new mutation. Occurrence 1: 40.000.

In past literature referred to as mild Hunter’s gargoylism, or Hurler-Hunter. A mild form and a severe form distinguished; however, the severe one is less severe than Hurler’s syndrome.

First described by Hunter in two brothers.


  • C. A. Hunter:
    A rare disease in two brothers.
    Proceedings of the Royal Society of Medicine, London, 1917, 10: 104-116.

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