Marden–Walker-like syndrome

Marden–Walker Syndrome is a rare genetic disorder characterized by multiple congenital contractures (arthrogryposis), a mask-like face with blepharophimosis (a condition where the eyelids are abnormally narrow and there is a horizontal shortening of the eye openings), micrognathia (small jaw), high-arched or cleft palate, and low-set ears. The syndrome is also associated with delayed growth and development, intellectual disability, and other anomalies.

Etiology

The exact cause of Marden–Walker Syndrome is not well understood, but it is believed to be genetic, possibly following an autosomal recessive inheritance pattern. This means that a child would need to inherit one copy of the mutated gene from each parent to be affected. However, the specific genes involved have not been conclusively identified.

Clinical Features

Individuals with Marden–Walker Syndrome present a range of clinical features, including:

• Congenital contractures, particularly in the elbows, knees, and fingers, leading to reduced mobility of the affected joints.
• A characteristic facial appearance described as "mask-like," which includes a small mouth, narrow eye openings (blepharophimosis), and a small jaw (micrognathia).
• Respiratory problems due to chest muscle weakness.
• Severe developmental delay and intellectual disability.
• Hearing loss and eye abnormalities may also be present.

Diagnosis

Diagnosis of Marden–Walker Syndrome is primarily based on clinical observation and the presence of characteristic features. Genetic testing may be helpful in ruling out other conditions with similar presentations but, due to the unknown genetic cause, it is not definitive for Marden–Walker Syndrome.

Management

There is no cure for Marden–Walker Syndrome, and management is supportive and symptomatic. This may include:

• Physical therapy to improve joint mobility and prevent contractures from worsening.
• Speech therapy to address communication challenges.
• Special education programs tailored to the individual's needs.
• Regular follow-up with a multidisciplinary team to manage the various aspects of the condition, including respiratory support, nutritional support, and addressing any hearing or vision problems.

Prognosis

The prognosis for individuals with Marden–Walker Syndrome varies depending on the severity of the symptoms and the presence of associated complications. Early intervention with supportive therapies can improve quality of life, but the life expectancy may be reduced due to respiratory complications.

Marden–Walker-like syndrome Resources
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