A metabolic syndrome characterised by progressive corneal clouding, coarsening of the facies and general dysplasia of the skeleton. Onset is at 5 to 15 years of age. Corneal opacity, gargoyle-like facies, joint contractures, carpal tunnel syndrome, claw hand, genu valgum, aortic valve lesions, excessive body hair, and dysostosis multiplex are principal features. It is distinguished from other forms of mucopolysaccharidosis by normal or near normal stature, little or no mental retardation, and a normal life span. Inheritance is autosomal recessive.
It is due to the same enzyme defect as Hurler’s syndrome.
- H. G. Scheie, G. W. Hambrick Jr, L. A. Barnes.
A newly recognised forme fruste of Hurler's disease (gargoylism).
American Journal of Ophthalmology, 1962, 55: 753-769.
- O. Ullrich:
Die Pfaundler-Hurlesche Krankheit.
Ergebnisse der Inneren Medizin und Kinderheilkunde, Berlin, 1943, 63: 929-1000.
- R. Rampini:
Der Spät-Hurler (Ullrich-Scheie Syndrom, Mucopolysaccharidose V).
Schweizerische medizinische Wochenschrift, Basel, 1969, 99: 1769-1778.