Hurler syndrome (pfaundler-hurler syndrome; gargoylism; dysostosis multiplex; mps ih syndrome; systemic mucopolysaccharidosis type ih; mucopolysaccharidosis ih) 5

General: Autosomal recessive inheritance; in addition to corneal opacities and enlargement of the head at birth, other symptoms become apparent at the end of the first year; death occurs usually before age 20 years; gross excess of chondroitin sulfate Band heparitin sulfate in the urine (see Hunter Syndrome; Sanfilippo-Good Syndrome; Morquio-Brailsford Syndrome; Scheie Syndrome; Maroteaux-Lamy Syndrome). Jensen suggested that the pathogenesis of the various mucopolysaccharidoses is the same but that the variations in the defective enzymes cause the different types; most common mucopolysaccharidosis, decreased α-iduronidase.

Ocular: Proptosis; hypertelorism; thick, enlarged lids; esotropia; diffuse haziness of the cornea at birth progressive to milky opacity; retinal pigmentary changes may exist; macular edema and absence of foveal reflex; optic atrophy; megalocornea; bushy eyebrows; coarse eyelashes; mucopolysaccharide deposits of iris, lens, and sclera; enlarged optic foramen; retinal detachment; anisocoria; buphthalmos; nystagmus; secondary open-angle glaucoma; progressive retinopathy with vascular narrowing; hyperpigmentation of the fundus; bone spicule; papilledema.

Clinical: Dorsolumbar kyphosis; head deformities with depressed nose bridge; short cervical spine; short limbs; macroglossia; enlarged liver and spleen; short stature; facial dysmorphism; progressive psychomotor retardation.

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