Decrease (-) Restore Default Increase (+)
Bookmark and Share

Related Information

Search Health Information   
 

Scheie syndrome

Definition

Scheie syndrome is metabolism disease passed down through families 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:

Alternative Names

Mucopolysaccharidosis type I S; MPS I S

Causes, incidence, and risk factors

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

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

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive trait. That means that both parents must pass along the defective gene for the offspring to have the disease.

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 (hirsutism)
  • Prognathism
  • Stiff joints

Signs and tests

A physical exam may show signs of:

An eye exam will show cloudy corneas and retinal pigmentation.

Urine tests will be done. Persons 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 patients with a defect in the enzyme a-L-iduronidase is now possible. This includes individuals with Scheie syndrome, but also Hurler and Hurler-Scheie syndromes.

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

Support Groups

The National MPS Society -- www.mpssociety.org

Expectations (prognosis)

Scheie syndrome is compatible with an almost normal lifespan. However, some disabilities such as limitation of joints, blindness, or deafness are likely to occur later in life.

Complications

  • 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

Calling your health care provider

Call your health care provider if you have symptoms of this disorder.

Prevention

Genetic counseling is recommended for prospective parents with 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.


Review Date: 5/15/2011
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
 

Medical Care

Cancer
Pregnancy & Prenatal Classes
Weight Loss
Orthopedics
Heart Disease
Neurology
Women's Health
More Medical Care

Locations

Hospitals
Immediate Care
Health Centers
Emergency Room
Doctors Offices
Specialists
Affiliate Hospitals

Patients and Visitors

MyChart
Pay Your Bill
Request an Appointment
Get Healthy
Support Groups
Fitness Groups
Mobile Applications
Clinical Trials
Online Nursery
Classes and Events
Send an eCard
Patient Stories
Places to Stay

About Us

Quality Report 
Careers
Ways to Help
Community Outreach
Contact Us
(502) 629-1234

Connect with us

© 2014 Norton Healthcare
Serving Kentucky and Southern Indiana