Hurler Syndrome Pictures

What is Hurler Syndrome ?

The enzyme alpha-L-iduronidase performs the vital function of breaking down the sugar molecules called mucopolysaccharides. When there is deficiency of the enzyme, it results in a rare and inherited disorder of metabolism called Hurler syndrome. The lack of enzyme alpha-L-iduronidase leads to an excessive accumulation of sugar molecules in the tissues of the body.

Hurler Syndrome Symptoms

Infants with Hurler syndrome may not show the symptoms during the first few years of their life. The facial features become more prominent after two years and the other symptoms often show up between 3 to 8 years of age. Some of the symptoms of Hurler syndrome are as follows:

  • Diseases of the joints which may include stiffness
  • Compression of the nerves at different places in the body, like carpal tunnel syndrome
  • The spine has abnormal skeletal structure
  • Decreased or halted growth or dwarfism
  • Claw-like hands
  • The cornea has a cloudy appearance
  • Intellectual deficiencies including progressive mental retardation.
  • Loss of hearing which may be complete deafness
  • The facial features are coarse and thick with a flattened nose
  • The spleen and the liver may be enlarged
  • Abnormalities in the Heart value
  • Limited language skills due to enlarged tongue
  • Restricted motor movement
  • Prominent forehead
  • Widened rib cage that are shaped like oars
  • Frequent and persistent upper respiratory infections and noisy breathing
  • Early death usually by the age of 10 due to cardiac and other organ complications.

Hurler Syndrome Causes

Hurler syndrome is caused due to the deficiency of the enzyme alpha-L-iduronidase which helps to break down the sugar molecules that are present throughout the body. This deficiency leads to sugar molecule accumulation and resultant multiple organ damage
Hurler syndrome can be passed on from parents to a child and hence has a genetic basis

Hurler Syndrome Treatment

Enzyme replacement therapy to replace a working form of the enzyme alpha-L-iduronidase.
Relevant treatments for the organs that have been affected by hurler syndrome
Bone marrow transplant in several patients have given mixed results

Support Groups for Hurler syndrome

Individuals with hurler syndrome may contact the organizations mentioned below for information and assistance:

  • The National MPS Society ->
  • Society for MPS Diseases ->
  • Canadian Society for MPS and Related Diseases ->


Hurler’s Syndrome Pictures

Hurler's syndrome

Picture 1: Hurler Syndrome Photo


Hurler's syndrome picture

Picture 2 : Hurler Syndrome

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Hurler s syndrome pictures

Picture 3  : Hurler Syndrome pic

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Hurler's syndrome x ray pictures

Picture 4 : claw like hands in Hurler Syndrome

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