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Zellweger-like syndrome Save


ICD-10 code: E71.541

Disease category: None

Zellweger-like Syndrome: An Overview of Symptoms and Causes

Zellweger-like syndrome, also known as Zellweger spectrum disorder, is a rare and complex genetic disorder that affects multiple organ systems in the body. This article provides a brief overview of the symptoms and causes associated with this condition.

  1. Neurological Symptoms: Individuals with Zellweger-like syndrome often experience various neurological symptoms. These may include developmental delays, muscle weakness, seizures, and hearing and vision problems.
  2. Facial Features: Certain facial characteristics are commonly observed in individuals with Zellweger-like syndrome. These features may include a high forehead, large fontanelles (soft spots on the skull), a flat face, and widely spaced eyes.
  3. Liver Dysfunction: Liver dysfunction is another prominent feature of Zellweger-like syndrome. It can lead to various complications such as jaundice, poor weight gain, and an enlarged liver.
  4. Kidney Abnormalities: Many individuals with Zellweger-like syndrome have kidney abnormalities. These abnormalities may affect the functioning of the kidneys and can lead to issues such as excessive urination, dehydration, and electrolyte imbalances.
  5. Causes: Zellweger-like syndrome is caused by mutations in certain genes that are essential for the normal functioning of peroxisomes, small structures within cells. These mutations result in the inability to form or maintain peroxisomes, leading to the characteristic features and symptoms of the disorder.

Zellweger-like syndrome is an inherited disorder, typically passed down in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to be affected.

It is important to note that Zellweger-like syndrome is a progressive condition with no known cure. Treatment mainly focuses on managing the symptoms and providing supportive care to improve the quality of life for affected individuals.

In conclusion, Zellweger-like syndrome is a rare genetic disorder characterized by a range of symptoms affecting the neurological, facial, liver, and kidney systems. Understanding the symptoms and causes of this disorder can help raise awareness and aid in early detection and appropriate management strategies.

Treatment of Zellweger-like syndrome:

Treatment Options for Zellweger-Like Syndrome

Zellweger-like syndrome, also known as Zellweger spectrum disorder, is a rare and complex genetic condition that affects various body systems. Although there is currently no cure for this syndrome, several treatment options can help manage its symptoms and improve the quality of life for affected individuals.

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