• Overview
• Inheritance
• Symptoms
  • Growth, Bones and Joints
  • Brain and Nerves
  • Physical Appearance
  • Ear, Nose, Throat and Chest
  • Heart
  • Liver, Spleen and Abdomen
  • Eyes
• Testing
• Treatment
• Resources
• Aldurazyme Update

The Physical Appearance

People with Hurler syndrome share similar facial features and have some other physical features in common. As a result, they tend to look somewhat alike and may be suspected of having Hurler syndrome based on their appearance alone.

Hurler syndrome causes a coarsening of the facial features, including: a short, broad nose with upturned nostrils, slightly protruding eyes, bushy eyebrows, an enlarged tongue, and a flat face. The head tends to be large and longer than usual from front to back (scaphocephaly).

Body hair is coarser and more plentiful than usual.

Joint contractures (joints that are fixed in a bent position) at the hips, knees, shoulders, and elbows result in a bent-over stance when standing and walking. The hands are short and broad, with stiffened finger joints that cause the fingers to bend. Enlargement of the liver and spleen causes the abdomen to protrude.