Hurler syndrome

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Low nasal bridge

Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I; Hurler-Scheie syndrome (MPS 1 H/S); Syndrome - Scheie (MPS1S)

Prospective parents with a family history of Hurler syndrome should have genetic counseling and testing, along with a complete family history profile.

Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9.

National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 05-4899. February 9, 2005.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.