Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Marden-Walker syndrome (MWS) is a very rare connective tissue disorder. Individuals with MWS often have certain facial features, limited joint movements called contractures, very slow growth and development, and decreased muscle mass and movements.

Who

There have only been about 30 cases of Marden-Walker syndrome reported. It occurs more often in males but can occur in females. MWS affects all ethnicities.

Signs and Symptoms

Individuals with Marden-Walker syndrome may have many or few of the following features: Head and Neck: MWS is often associated with characteristic facial features such as small eyes, eyes that are wider apart then usual, a small mouth and jaw, a hole in the roof of the mouth (cleft palate) or a high roof of the mouth (high arched palate), and abnormally shaped ears. The size of the head may be small (microcephaly), and facial expressions may be limited (immobile facies). The neck may also be short. Musculoskeletal: MWS causes stiffening of the joints (joint contractures) in many areas of the body, such as the elbow, knee, and hip. It can also cause muscle weakness, decreased muscle tone, and loss of muscle mass. The bones in the back may be curved more then normal and abnormally aligned with each other (kyphoscoliosis). Hands and Feet: The fingers and toes may be long and slender (arachnodactyly). The fingers may not be able to straighten completely (camptodactyly). The feet may be turned in towards the body. Growth and Development: MWS can cause mental retardation and severe developmental delay. Children may have problems reaching normal motor and verbal milestones. The infant may be small starting before birth. The child may have feeding difficulties and “fail to thrive,” which means that the child has problems growing and gaining weight. Other: A few individuals with MWS may have abnormalities of the brain and may have seizures. They can also have abnormalities of the heart, lungs, gastrointestinal tract, kidneys, and genitalia.

Possible Causes

All of us have genetic material that makes us who we are. We have two of almost every gene. Genetic disorders are often caused by defects in a gene. The gene defect that causes Marden-Walker syndrome has not been identified yet. MWS is an autosomal recessive genetic disorder. This means that each parent has one abnormal gene and one normal gene. Because each parent has one normal gene, they themselves do not have MWS. However, when the child receives one abnormal gene from each of the parents, the child has two affected genes. In autosomal recessive diseases, when a person has two abnormal genes, he or she is affected with the disease; in this case, Marden-Walker syndrome.

Diagnosis

Marden-Walker syndrome is mainly diagnosed based on the clinical features it causes. Signs and symptoms such as growth delay and muscle defects can be caused by many disorders, so doctors may need to do many tests before diagnosing MWS, especially since it is a very rare disease. These tests may include blood and urine tests; imaging studies (such as X-rays, ultrasounds, CT scans, and MRIs) of areas such as the bones, joints, brain, heart, and kidneys. A piece of skin or muscle can also be taken for examination under the microscope (skin and muscle biopses).

Treatment

Although there is no cure for Marden-Walker syndrome, supportive treatment may be helpful by a team of doctors. This team may include the regular pediatrician, geneticist, and neurologist. An orthopedist and physical medicine specialist can help with problems of the bones, joints, and muscles using specific therapies. Special diets and feeding techniques may be used to increase the child’s weight to a healthier one. Early educational intervention is helpful to improve development. Other treatments vary depending on which organs or areas of the body are affected.

Prognosis

Since there have only been a few cases of Marden-Walker syndrome reported, the prognosis remains unclear. It may vary from individual to individual depending on which areas of the body are affected and the severity of the defects. Some researchers have noted that the joint contractures may get better with age.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Marden Walker Organization/Family Support Group c/o Ann Stearns P.O. Box 239 New Haven, KY 40051 Tel: (502) 549-3028 Email: stearnsa@bardstown.com or stearnsky@yahoo.com This group provides information, resources, and support for individuals and families affected by Marden-Walker syndrome.

National Organization for Rare Disorders (NORD)

Google Search for Marden-Walker Syndrome

References and Sources

AboutFace USA www.aboutfaceusa.org Wonderful website with a goal to enhancing a child’s self image and self esteem. Contains conferences, financial information, peer networking and link to other sites. Children's Craniofacial Association Phone: (800) 535-3643 www.ccakids.com Website includes a newsletter, services, and links to other sites.