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General Appearance and Growth

Children with MPS VI generally present with macrocephaly and progressively dysmorphic facial features. The overall appearance is similar to MPS I:1,2

  • macrocephaly
  • prominent forehead
  • prominent eyes
  • broad nose and low nasal bridge
  • thick lips
  • enlarged tongue
  • hyperplastic gums and small, widely spaced teeth

Other manifestations of MPS VI include the following:1-6

  • short stature
  • shortened trunk
  • crouching, flexed-knee stance
  • protuberant abdomen
  • arched back
  • flexion contratures of the hand or hands that are short and broad, with short,
    thick fingers 2,3
  • waddling gait and toe walking 1,4,5

Although children with MPS VI initially exhibit normal or even accelerated growth rates, growth gradually decelerates, and in patients with rapidly advancing disease, has stopped altogether by the age of 6 or 8 years. Individuals with rapidly advancing disease exhibit extreme short stature, reaching maximum heights between 110 and 140 cm (43 to 55 inches). Individuals with slowly advancing disease reach final heights of 160 to 170 cm (63 to 67 inches).1,3,5-7

MPS VI patients exhibit poor exercise capacity, probably from a variety of causes, including cardiopulmonary involvement, respiratory compromise, and musculoskeletal constraints.1

Short Stature and Flexed-Knee Stance. Seen with coarse facies in a 16-year-old male with rapidly advancing disease (left). A 3-year-old with slowly advancing disease does not exhibit such obvious features (right).
Photo courtesy of The National MPS Society, Inc. (right)
 
Dysmorphic Facial Features. Broad nose, flat nasal bridge, enlarged tongue and lips, and macrocephaly, seen in a 12-year-old female with rapidly advancing disease (left). A 6-year-old male with more slowly advancing disease exhibits very subtle facial coarsening (right).
 
Claw Hand Deformity. Short fingers with fixed flexion and poor dexterity, seen in a 16-year-old with rapidly advancing disease (left). A 5-year-old earlier in the course of the disease exhibits less severe finger flexion (right).
 
Short Stature. Short stature of 3 individuals with MPS VI, age 12 (left), age 16 (middle, seated), and age 31 (right, seated) is obvious relative to 2 unaffected relatives (rear). Reliance on mobility aids, such as the motorized carts seen here, is common in MPS VI patients—a result of poor exercise capacity.1-3
  1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw- Hill; 2001:3421-3452.
  2. Miller G, Partridge A. Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. Pediatr Cardiol. 1983;4:61-62.
  3. Whitley CB. The mucopolysaccharidoses. In: Beighton P, ed. McKusick's Heritable Disorders of Connective Tissue. 5th ed. St Louis, Mo: Mosby; 1993:367-499.
  4. Spranger JW, Koch F, McKusick VA, et al. Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helv Paediatr Acta. 1970;25:337-362.
  5. Kakkis ED, Neufeld EF. The mucopolysaccharidoses. In: Berg BO, ed. Principles of Child Neurology. New York, NY: McGraw-Hill; 1996:1141-1165.
  6. Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr. 2004;163 (6) :323326.
  7. Sweidler SJ, Beck M, Bajbouj M, et al. Thres hold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet; 2005; 134; 144-150.
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