Marden-Walker syndrome

Marden-Walker syndrome is a malformation syndrome that affects several parts of the body. People with this condition often have a mask-like face with features such as blepharophimosis (narrowed eye openings), micrognathia (a small lower jaw), high-arched or cleft palate, and low-set ears. In addition, the condition is characterized by multiple joint contractures (arthrogryposis), decreased muscle bulk, and skeletal features including kyphoscoliosis (curvature of the spine) and arachnodactyly (long, slender fingers). These physical differences can affect appearance and body movement. The description provided highlights the multiple challenges that may arise with the syndrome. This summary is based on available information from trusted resources such as the DEFINITION, OMIM, Orphanet, and GARD entries.

People with Marden-Walker syndrome typically show signs such as multiple joint contractures, a mask-like facial appearance, reduced muscular bulk, and skeletal abnormalities like kyphoscoliosis and arachnodactyly. Other physical findings include features such as blepharophimosis, micrognathia, a high-arched or cleft palate, and low-set ears.

Genetic changes have been associated with this condition. The PIEZO2 gene is known to be involved, indicating that alterations in this gene may play a role in the development of Marden-Walker syndrome. More detailed information about the causes and risk factors is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.