Berdon syndrome

Berdon Syndrome is a rare congenital disorder characterized by a distended abdomen, urinary tract abnormalities, and megacystis. It is also known as Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).

Symptoms

The primary symptoms of Berdon Syndrome include a distended abdomen due to a large bladder (megacystis), a small colon (microcolon), and decreased or absent intestinal movements (intestinal hypoperistalsis). Other symptoms may include urinary tract abnormalities, such as vesicoureteral reflux, and malrotation of the gut.

Causes

Berdon Syndrome is caused by mutations in the ACTG2 gene. This gene provides instructions for making a protein that is involved in muscle contraction. Mutations in the ACTG2 gene disrupt the normal function of smooth muscle cells, leading to the symptoms of Berdon Syndrome.

Diagnosis

Diagnosis of Berdon Syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include imaging studies, such as ultrasound, to visualize the bladder and intestines, and genetic testing to identify mutations in the ACTG2 gene.

Treatment

Treatment of Berdon Syndrome is symptomatic and supportive. It may include surgical interventions to manage the bladder and intestinal abnormalities, and nutritional support to ensure adequate growth and development. Genetic counseling may be beneficial for affected individuals and their families.

Prognosis

The prognosis for individuals with Berdon Syndrome is poor, with most individuals not surviving past infancy. However, with early diagnosis and appropriate treatment, some individuals may survive into adulthood.

See Also

• ACTG2
• Megacystis
• Microcolon
• Intestinal Hypoperistalsis
• Vesicoureteral Reflux
• Genetic Counseling

References

• [[1]]
• [[2]]
• [[3]]

Berdon syndrome Resources
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