This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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.
For more information, visit GARD.