Scheie syndrome

  • Definition
  • Alternative Names
    • Mucopolysaccharidosis type I S; MPS I S

  • Causes
    • Scheie syndrome is an inherited condition, which means it is passed down through families. If both parents carry a nonworking copy of a gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. This is called an autosomal recessive trait.

      People with Scheie syndrome are missing an enzyme called lysosomal alpha-L-iduronidase. This enzyme helps break down long chains of sugar molecules called glycosaminoglycans. These molecules are found throughout the body, often in mucus and in fluid around the joints.

      Without the enzyme, glycosaminoglycans build up in body tissues and can damage organs, including the heart. Symptoms can range from mild to severe.

  • Symptoms
    • Symptoms may not appear until age 4 or 5, and may include:

      • Broad mouth with full lips
      • Claw hands and deformed feet
      • Cloudy cornea and progressive loss of vision, resulting in blindness
      • Coarsened facial features
      • Increased body hair
      • Jaws that extend out farther than normal
      • Stiff joints
  • Exams and Tests
    • A physical exam may show signs of:

      • Aortic regurgitation (blood flows back into the heart because aortic valve doesn’t fully close)
      • Hearing loss
      • Hernias in the groin or near the belly button
      • Liver swelling
      • Jaws that extend out farther than normal

      An eye exam will show cloudy corneas and retinal pigmentation.

      Urine tests will be done. People with Scheie syndrome have increased amounts of dermatan and heparan sulfate in their urine. See: Urine dermatan sulfate

      Other tests may include:

  • Treatment
    • Enzyme replacement therapy for people with a defect in the enzyme a-L-iduronidase (lauonidase) is now possible. This includes individuals with Scheie syndrome, and also Hurler and Hurler-Scheie syndromes.

      Early detection and treatment of spinal cord compression can prevent permanent nerve damage. Treatment is also given for heart problems caused by leaky valves.

  • Support Groups
  • Outlook (Prognosis)
    • A person with Scheie syndrome can live an almost normal lifespan. However, some disabilities such as limitation of joints, blindness, or deafness are likely to occur later in life.

  • Possible Complications
    • These complications may occur:

      • Compression of the spinal cord, which can lead to loss of nerve function
      • Extremity deformities
      • Hearing loss and deafness
      • Problems with the aortic valve
      • Vision problems
  • When to Contact a Medical Professional
    • Call your health care provider if you or your child has symptoms of this disorder.

  • Prevention
    • Genetic counseling is recommended for couples who want to have children and who have a family history of Scheie syndrome. Counseling is also recommended for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments. Prenatal testing is available.

  • References
    • Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 260.

      Spranger J. Mucopolysaccharidoses. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 82.

      Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 40.