Hurler’s syndrome [Gertrude Hurler, German physician, 1889–1965] , a type of mucopolysaccharidosis, transmitted as an autosomal-recessive trait, that produces severe cognitive impairment. Symptoms appear within the first few months of life. Characteristic signs of the disease are enlargement of the liver and spleen, often with cardiovascular involvement. Facial characteristics include a low forehead and enlargement of the head, sometimes resulting from hydrocephalus. Corneal clouding is common, and the neck is short. Marked kyphosis is apparent at the dorsolumbar level, and the hands and the fingers are short and broad. Flexion contractures are common. The disease process usually results in death during childhood from cardiac complications or pulmonary disorders. Also called gargoylism, lipochondrodystrophy, MPS I. See also mucopolysaccharidosis.
