Pena–Shokeir syndrome

Pena–Shokeir syndrome is a rare genetic disorder characterized by a range of physical anomalies and developmental delays. It falls under the category of fetal akinesia deformation sequence (FADS), a group of conditions that result from reduced fetal movement. The syndrome is named after the researchers who first described it, Pena and Shokeir, in 1974.

Causes

Pena–Shokeir syndrome is caused by genetic mutations that affect fetal muscle movement. The exact genetic cause can vary among individuals, and in many cases, the specific mutation remains unidentified. The condition is inherited in an autosomal recessive manner, meaning that a child must inherit one copy of the mutated gene from each parent to be affected.

Symptoms

The syndrome is characterized by a wide range of symptoms, including:

• Fetal akinesia: Reduced fetal movement in the womb, leading to various physical deformities.
• Arthrogryposis: Joint contractures that are present at birth, affecting multiple areas of the body.
• Pulmonary hypoplasia: Underdevelopment of the lungs, which can lead to breathing difficulties after birth.
• Facial anomalies: These may include a narrow, sloping forehead, a nose with a broad tip, and a small jaw.
• Growth retardation: Affected individuals may have a low birth weight and experience slowed growth after birth.

Diagnosis

Diagnosis of Pena–Shokeir syndrome is primarily based on clinical observation and the presence of characteristic symptoms. Prenatal ultrasound may reveal reduced fetal movements and physical anomalies suggestive of the syndrome. Genetic testing can be helpful in confirming the diagnosis, especially if a specific mutation is identified.

Treatment

There is no cure for Pena–Shokeir syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to improve joint mobility, respiratory support for those with pulmonary hypoplasia, and surgical interventions to correct physical deformities. Early intervention and a multidisciplinary approach are crucial for addressing the complex needs of affected individuals.

Prognosis

The prognosis for individuals with Pena–Shokeir syndrome varies depending on the severity of symptoms. The condition can be life-threatening in severe cases, particularly when significant pulmonary hypoplasia is present. Many affected infants experience significant developmental delays and may require lifelong support and care.

See also

• Genetic disorder
• Arthrogryposis
• Fetal akinesia deformation sequence

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