Pataus Syndrome

Patau syndrome, also known as trisomy 13, is a genetic disorder where an extra chromosome 13 causes severe developmental and physical issues. It often leads to serious health complications and has a low survival rate beyond infancy.

What is Patau syndrome?

Patau syndrome is a genetic condition caused by an extra chromosome 13. This condition can lead to serious health problems and affects how the body develops.

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What are the symptoms of Patau syndrome?

People with Patau syndrome may show a range of symptoms, including:

  • Severe learning and developmental delays
  • Heart defects
  • Problems with the brain and spinal cord
  • Low birth weight
  • Physical features like a small head and eyes that are close together
  • Extra fingers or toes
  • Cleft lip or cleft palate

What causes Patau syndrome?

Patau syndrome happens when there is an extra copy of chromosome 13 in a person’s cells. This extra chromosome disrupts normal development.

How common is Patau syndrome?

Patau syndrome is quite rare, occurring in about 1 in every 10,000 births. However, it is more common in babies born to older mothers.

Who is more likely to get Patau syndrome?

Some factors that may increase the chance of having a baby with Patau syndrome include:

  • Being an older mother, especially over the age of 35
  • A family history of chromosomal abnormalities

How can I treat Patau syndrome?

There is no specific cure for Patau syndrome. Treatment focuses on managing specific symptoms and providing support. This may include:

  • Regular check-ups to monitor health
  • Specialised medical care for heart or other health issues
  • Physical therapy or other support services to aid development

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How to live with Patau syndrome?

Patau syndrome can be a long-term condition, and living with it can be challenging. Families may need to:

  • Seek support from medical professionals
  • Access community resources for families
  • Gather information about the condition to understand it better

What support is available for people with Patau syndrome?

Support for families and individuals with Patau syndrome can include:

  • Support groups for parents and families
  • Access to educational resources and therapies
  • Emotional support from counsellors or psychologists

What’s the outlook for Patau syndrome?

The outlook for individuals with Patau syndrome can vary greatly. Many do not survive beyond the first few months or years of life. Those who do may face significant health challenges and developmental delays.

Final thoughts

Patau syndrome is a serious genetic condition that can affect many parts of a person’s health and development. If you have any concerns or questions, it is important to speak to your GP or healthcare provider.

Sources

NHS

Healthline

WebMD

Patient.info

Always consult a medical professional
This article is for informational purposes only and is not a substitute for medical advice. Always consult a healthcare professional before starting, stopping or changing any medication. If you have concerns about your medication or experience side effects, speak to your doctor or pharmacist immediately.

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