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.

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.

Marden-Walker syndrome (MWS) is a connective tissue disorder characterized by distinctive facial features, a cleft or high-arched palate, a small or receding jaw (micrognathia), fixed bone joints (contractures or arthrogryposis), and growth delay. 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. While the underlying cause of MWS 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. Mutations in the PIEZO2 gene have been identified in a few individuals with MWS. Although there is no specific treatment or cure for MWS, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach. 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.