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Scheie syndrome

Scheie syndrome is metabolism disease in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS I S.

See also:

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

For more information and support, contact one of the following organizations:

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.

Alternative Names

Mucopolysaccharidosis type I S; MPS I S

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.

Review Date 4/20/2015

Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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