Although babies with MPS I usually appear normal at birth, over time characteristic symptoms begin to appear. Hurler children may be diagnosed in the first few years of life because of clouding of the cornea, delayed development, walking difficulty, different facial features, enlargement of the liver and spleen and thickening of hair and skin.

Scheie syndrome is diagnosed in later childhood or young adult life because of stiffening of joints or clouding of the cornea.

Most individuals affected by MPS I have a common appearance. Those individuals with Hurler syndrome have coarse facial features. Their heads are quite large and tend to be longer than normal from front to back with a bulging forehead. The nose is broad with a flat bridge and wide upturned nostrils. The eyes protrude slightly. The tongue is enlarged and may stick out. The hair is more luxuriant than usual and the eyebrows are bushy. There may be more hair than usual on the body. Children have protruding bellies and stand with hips and knees bent.

The appearance of Scheie sufferers is quite variable. Adults are often stocky in build and their trunks are shorter than their limbs. The neck is short, the mouth broad and the jaw is square.

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