Syndromes Associated With Communication Disorders Hurler’s syndrome, also known as gargolism or MPS Disorder I, is a form of mucopolysaccharidoses. Mucopolysaccharides are a group of rare genetic disorders caused by a deficiency of one of 10 specific lysosomal enzymes. Hurler’s syndrome is caused by a deficiency of the enzyme alpha-L-iduronidase. This results in the ... Article
Article  |   July 01, 2003
Syndromes Associated With Communication Disorders
Author Affiliations & Notes
  • Kerri Hartleben
    Department of Speech Pathology and Audiology, West Virginia University, Morgantown
Article Information
Special Populations / Genetic & Congenital Disorders / Language Disorders / Articles
Article   |   July 01, 2003
Syndromes Associated With Communication Disorders
SIG 5 Perspectives on Speech Science and Orofacial Disorders, July 2003, Vol. 13, 10. doi:10.1044/ssod13.1.10
SIG 5 Perspectives on Speech Science and Orofacial Disorders, July 2003, Vol. 13, 10. doi:10.1044/ssod13.1.10
Hurler’s syndrome, also known as gargolism or MPS Disorder I, is a form of mucopolysaccharidoses. Mucopolysaccharides are a group of rare genetic disorders caused by a deficiency of one of 10 specific lysosomal enzymes. Hurler’s syndrome is caused by a deficiency of the enzyme alpha-L-iduronidase. This results in the inability to metabolize complex carbohydrates or mucopolysaccharides. Many physical symptoms and abnormalities may result from the accumulation of the unbroken muco-polysaccharides. Disorder subdivisions of Hurler’s syndrome include Hurler-Scheie’s syndrome, mucopolysac-charidosis i-h, mucopolysac-charidosis I-S, and Scheie’s syndrome.
For additional information contact National MPS (Mucopoly-saccharidoses/Mucolipidoses) Society, Inc. (http://mpssociety.org).
Laurence-Moon syndrome, also known as adipogenital-retinitis Pigmentosa syndrome, is a rare disorder characterized by reduced hormone production by the testes or ovaries (hypogonadism), progressive vision loss (retinitis pigmentosa), mental retardation, and spastic paraplegia of the lower body and legs. Medical literature originally classified patients with the characteristics of obesity, retinitis pigmentosa, and mental retardation under the category of Laurence-Moon-Bardet-Biedl syndrome; however, recent studies have identified distinct subtypes of Bardet-Biedl and Laurence-Moon syndrome.
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