Marden-Walker syndrome

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Disease Overview

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.[11975] This condition is diagnosed by a clinical exam and other medical tests. Treatment is based on managing the symptoms.[3119][3120][15578]


Synonyms

  • MWS
  • Connective tissue disorder Marden Walker type

For more information, visit GARD.

National Organization for Rare Disorders