GTR Home > Conditions/Phenotypes > Pseudo-Hurler polydystrophy

Disease characteristics

Excerpted from the GeneReview: Mucolipidosis III Alpha/Beta
Mucolipidosis alpha/beta (ML III alpha/beta; pseudo-Hurler polydystrophy), a slowly progressive disorder with clinical onset at approximately age three years, is characterized by slow growth rate and subnormal stature; radiographic evidence of mild to moderate dysostosis multiplex; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. If present, organomegaly is mild. Pain from osteoporosis that is clinically and radiologically apparent in childhood becomes more severe from adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood.

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Associated genes

Clinical features

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  • Short stature
  • Intellectual disability
  • Hyperopic astigmatism
  • Broad ribs
  • Craniosynostosis
  • Coarse facial features
  • J-shaped sella turcica
  • Shallow acetabular fossae
  • Short long bones
  • Soft tissue swelling of interphalangeal joints
  • Increased serum iduronate sulfatase activity
  • Opacification of the corneal stroma
  • Carpal bone hypoplasia
  • Increased serum beta-hexosaminidase
  • Mandibular prognathia
  • Retinopathy
  • Short ribs
  • Dysostosis multiplex
  • Thickened skin
  • Split hand
  • Specific learning disability
  • Aortic regurgitation
  • Scoliosis
  • Deficiency of N-acetylglucosamine-1-phosphotransferase
  • Irregular carpal bones
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