Hunter syndrome physical examination

Hunter syndrome Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Physical manifestations for some people with Hunter syndrome include distinct facial features, a large head, and an enlarged abdomen. People with Hunter syndrome may also experience hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen. Range of motion and mobility may also be affected. In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems.

Physical Examination

Eye

• Abnormal retina (back of the eye)

Heart

• Heart murmur and leaky heart valves

Abdomen

• Hepatomegaly
• Splenomegaly
• Inguinal hernia

Skin

• Skin lesions
  • Pebbly, ivory-colored skin lesions may be found on the upper arms and legs and upper back of some people with Hunter syndrome.
  • The presence or absence of the skin lesions is not helpful, however, in predicting clinical severity in Hunter syndrome.

Others

• Joint contractures
• Spasticity