Also known as Hurler’s syndrome, gargoylism is a rare condition due to lack of a speciﬁc ENZYME. It is a progressive disorder usually leading to death before the age of 10 years. The aﬀected child is usually normal during the ﬁrst few months of life; mental and physical deterioration then set in. The characteristic features include coarse facial features (hence the name of the condition), retarded growth, chest deformity, stiﬀ joints, clouding of the cornea (see EYE), enlargement of the liver and spleen, deafness, and heart murmurs, with mental deterioration. It occurs in about one in 100,000 births.
Article Categories:Medical Dictionary