Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Marden-Walker syndrome


Other Names for this Disease

  • Connective tissue disorder Marden Walker type
  • MWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter has been diagnosed with Marden-Walker syndrome. What can you tell me about this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Marden-Walker syndrome?

Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner.[1][2][3][4]  
Last updated: 5/27/2011

What are the signs and symptoms of Marden-Walker syndrome?

Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or tendons around joints), and decreased muscular mass.[1][3][4] Additional features may include ptosisarachnodactyly, camptodactyly (an unusual curvature of the fingers), chest deformities, kyphoscoliosis, and absent deep tendon reflexes. Some individuals have renal anomalies, cardiovascular abnormalities or cerebral malformations.[3] 

Most signs of Marden-Walker syndrome present in the neonatal period. Disease course is characterized by failure to thrive and psychomotor retardation.[1][3] Mental retardation generally remains severe, whereas contractures are not progressive and decrease with advancing age and physiotherapy.[3]

Last updated: 5/27/2011

What causes Marden-Walker syndrome?

The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases.[3][4]
Last updated: 5/27/2011

Is Marden-Walker syndrome inherited?

Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported.[3][4][5]
Last updated: 5/27/2011

How might Marden-Walker syndrome be treated?

Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach.[3] The team of providers may include a regular pediatrician, a geneticist, a neurologist, an orthopedist and/or a physical medicine specialist. Special diets and feeding techniques may be of benefit. Early childhood intervention services may help with developmental problems. Other treatments are dependent upon the specific symptoms present in each patient.[6] 
Last updated: 5/27/2011

References
Other Names for this Disease
  • Connective tissue disorder Marden Walker type
  • MWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.