A metabolic syndrome combining symptoms less severe than Hurler’s syndrome, more severe than Scheie’s syndrome. It is generally characterized by typical coarse (gargoylelike) facies, corneal opacitiy, dysostosis multiplex, moderate mental retardation, and dwarfism. A unique feature seems represented by the dimensions and consequence of presence to arachnoid cysts, which probably have the time to grow because of longer survival of patient with this genetic combination. Distinctive micrognathism. Mental development may be normal. Autosomal inheritance. The affected persons are thought to represent compound heterozygotes inheriting one Hurler and One Scheie gene from each parent.
- H. G. Scheie, G. W. Hambrick Jr, L. A. Barnes.
A newly recognised forme fruste of Hurler's disease (gargoylism).
American Journal of Ophtalmology, 1962, 55: 753.
- T. Kajii, K. Matsuda, T. Osawa, et al:
Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS in Japanese brothers.
Clinical Genetics, Copenhagen, 1974, 6: 394-400.