Gargoylism

Gargoylism, also termed as Hurler syndrome and mucopolysaccharidosis type I (MPS I), is a genetic disorder characterized by an upturned nose with continuous discharge and thickened gums. This rare kind of dysmorphism is caused by the deficiency of lysosomal alpha-L-iduronidase enzyme which leads to the accumulation of the sugar molecules, glycosaminoglycans, in lysosomes. The physical features may begin manifesting at 3 to 6 months of age. The symptoms include roughening of facial structures, elongated skull, flattened nose bridge, protruding eyes, and large lips. Affected individuals may stop growing by 2 years of age and present with joint stiffness, carpal tunnel syndrome, spine deformities, and hip deformities. Unfortunately, cases of gargoylism generally report death by the age of 10.