Condition 101 About Marden-Walker Syndrome

What is the definition of Marden-Walker Syndrome?

Marden-Walker syndrome (MWS) is a genetic condition affecting the connective tissue. MWS is very rare and information about this condition is based on less than 50 people. Features may include distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. Other symptoms may include a mask-like face with a narrowing of the eye opening (blepharophimosis), low-set ears, failure to thrive, and a generalized slowing down of physical reactions, movements, and speech. The cause of MWS is unknown. A few individuals have been found to have a PIEZO2 gene that is not working correctly. It is likely inherited in an autosomal recessive pattern. This condition is diagnosed by a clinical exam and other medical tests. Treatment is based on managing the symptoms.

What are the alternative names for Marden-Walker Syndrome?

  • MWS
  • Connective tissue disorder Marden Walker type

What are the causes for Marden-Walker Syndrome?

The cause of Marden-Walker syndrome is unknown. Some individuals have been found to have a PIEZO2 gene that is not working correctly.

What are the symptoms for Marden-Walker Syndrome?

The following list includes the most common signs and symptoms in people with Marden-Walker syndrome (MWS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms include:
  • Mask-like face
  • Narrow eye opening (blepharophimosis)
  • Small mouth,
  • Small chin (micrognathia)
  • Cleft palate
  • Frozen joints (joint contractures)
  • Intellectual disability
  • Decreased muscle mass
Additional features may include arachnodactyly, chest deformities, curvature of the spine, and absent deep tendon reflexes. Some individuals have kidney, heart, or brain abnormalities.

Marden-Walker syndrome (MWS) is very rare and little information is known about how the disease changes over time. Most signs of MWS are present at birth or in early infancy. As children with this condition grow, they may develop failure to thrive and intellectual disability. The joint contractures may get better with time.

What are the current treatments for Marden-Walker Syndrome?

Treatment for Marden-Walker syndrome (MWS) is based on managing the symptoms.

Specialists who may be involved in the care of someone with Marden-Walker syndrome include:
  • Medical geneticist
  • Neurologist
  • Orthopedist
  • Physical therapist
  • Occupational therapist

How is Marden-Walker Syndrome diagnosed?

Marden-Walker syndrome (MWS) is diagnosed based on a clinical history, exam, and additional medical tests, such as imaging and nerve conduction studies. In addition, several other conditions resemble Marden-Walker syndrome and may need to be excluded.

Is Marden-Walker Syndrome an inherited disorder?

Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers.  Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition. 

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