Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.
the prototypical form of mucopolysaccharidosis, with a gargoyle-like face, dwarfism, severe somatic and skeletal changes, severe mental retardation, cloudy corneas, deafness, cardiovascular defects, hepatosplenomegaly, and joint contractures. It is due to a deficiency of the enzyme α-l-iduronidase, and is transmitted as an autosomal recessive trait. Called also gargoylism.
Etymology: Gertrude Hurler, German physician, 1889-1965
a type of mucopolysaccharidosis, transmitted as an autosomal-recessive trait, that produces severe mental retardation. 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.
Hurler's syndromeOne of the mucopolysaccharidoses, a group of inherited disorders. Hurler's syndrome is due to the absence of the enzyme alpha-iduronidase. There is dwarfism, many skeletal deformities, corneal opacity, heart abnormalities, mental retardation and early death. The condition was once known as ‘gargoylism’. (Gertrude Hurler, Austrian paediatrician, who described the condition in 1920)