disease: Dysostosis multiplex

nameDysostosis multiplex
descriptionMucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory-tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth decreases. Intellectual disability is progressive and profound. Hearing loss is common. Death, typically caused by cardiorespiratory failure, usually occurs within the first ten years of life. Attenuated MPS I. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decades to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities can be present. Clinical onset is usually between ages three and ten years. Hearing loss and cardiac valvular disease are common.
variant-disease NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) AND Dysostosis multiplex
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) AND Dysostosis multiplex
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) AND Dysostosis multiplex
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) AND Dysostosis multiplex
NM_000203.5(IDUA):c.299+1313del AND Dysostosis multiplex
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