Hurler syndrome

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Low nasal bridge

Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I H

Symptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth. Facial symptoms may become more noticeable during the first 2 years of life.

Symptoms include:

• Abnormal bones in the spine
• Claw hand
• Cloudy corneas
• Deafness
• Halted growth
• Heart value problems
• Joint disease, including stiffness
• Mental retardation that gets worse over time
• Thick, coarse facial features with low nasal bridge

• EKG
• Genetic testing for the alpha-L-iduronidase (IDUA) gene
• Urine tests for extra mucopolysaccharides
• X-ray of the spine

Review Date: 04/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).

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