Marden–Walker syndrome

Marden-Walker Syndrome

Diagram of autosomal recessive inheritance pattern

Marden-Walker syndrome is a rare genetic disorder characterized by a distinct set of congenital anomalies. It is primarily known for its autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Clinical Features

Individuals with Marden-Walker syndrome typically present with a combination of craniofacial abnormalities, arthrogryposis (joint contractures), and developmental delay. The craniofacial features often include a mask-like face, a high-arched palate, and a small jaw (micrognathia). Other common features include ptosis (drooping of the upper eyelid), a short stature, and hypotonia (reduced muscle tone).

Genetics

Marden-Walker syndrome is inherited in an autosomal recessive manner. This means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves. The specific gene or genes involved in Marden-Walker syndrome have not been definitively identified, but research is ongoing to better understand the genetic basis of this condition.

Diagnosis

Diagnosis of Marden-Walker syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other conditions with overlapping symptoms. Prenatal diagnosis may be possible if the genetic mutation is known in the family.

Management

There is no cure for Marden-Walker syndrome, and treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include physical therapy to address joint contractures, speech therapy for communication difficulties, and regular monitoring by a team of specialists to address any medical complications that arise.

Related Pages

• Genetic disorder
• Autosomal recessive
• Craniofacial abnormalities
• Arthrogryposis