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 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
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.
For more information and support, contact one of the following organizations:
Call your health care provider if you or your child has symptoms of this disorder.
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.
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.
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.