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What is Kleefstra Syndrome?

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Summary

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Kleefstra Syndrome is a rare genetic condition impacting development, leading to learning, communication, and behavioral challenges. Remember, individuals with Kleefstra Syndrome possess unique strengths and abilities that, with proper support, can lead to fulfilling lives.

Table of Contents

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Frequently Asked Question

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How is Kleefstra Syndrome diagnosed?

Kleefstra Syndrome is typically diagnosed through genetic testing, which looks for the presence of EHMT1 gene mutations or deletions.

Can individuals with Kleefstra Syndrome live independently?

The level of independence varies among individuals with Kleefstra Syndrome. With appropriate support and accommodations, some individuals can achieve varying degrees of independence in adulthood, while others may require ongoing assistance.

Is Kleefstra Syndrome inherited?

Kleefstra Syndrome can occur as a result of a spontaneous genetic mutation or a deletion in the EHMT1 gene. In most cases, it is not inherited from the parents. However, there is a possibility for individuals with Kleefstra Syndrome to pass the syndrome on to their children in rare instances.

Are there support networks or organizations for families affected by Kleefstra Syndrome?

Yes, there are support networks and organizations that provide resources, information, and a community for families affected by Kleefstra Syndrome, such as Kleefstra Syndrome Support Group and Kleefstra Syndrome Foundation.

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Scientific Definition

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Kleefstra Syndrome, or 9q34.3 deletion syndrome, is a rare genetic disorder caused by a deletion or mutation in the EHMT1 gene. This gene produces a protein that plays a crucial role in brain development and function. Individuals with Kleefstra Syndrome typically exhibit intellectual disability, delayed speech and language development, and characteristic facial features. They may also have medical issues such as seizures, low muscle tone, and heart abnormalities.

Video Explanation

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Treatment for Kleefstra Syndrome

Early intervention and targeted therapies are key in supporting individuals with Kleefstra Syndrome and improving their overall well-being and development.

  • Speech therapy: Enhances communication skills.
  • Occupational therapy: Develops fine motor skills and daily living activities.
  • Behavior therapy: Addresses challenging behaviors and teaches coping strategies.
  • Educational support: Individualized plans and specialized instruction.
  • Medical management: Regular check-ups and addressing associated conditions.

While the long-term prognosis varies, many can lead fulfilling lives with support. By implementing these strategies, parents can provide their children with the best opportunities for growth and success.

Symptoms of Kleefstra Syndrome

Kleefstra Syndrome can present with a range of symptoms that affect various aspects of a person’s development. Here are some of the most common symptoms:

  • Intellectual disability: Individuals with Kleefstra Syndrome often have intellectual disability, which can vary in severity.
  • Delayed speech and language development: Children may experience challenges acquiring speech and language skills, requiring speech therapy and alternative communication methods.
  • Characteristic facial features: Some individuals with Kleefstra Syndrome may have distinct facial features, such as a broad nasal bridge and a thin upper lip.
  • Behavioral difficulties: Behavioral issues, including hyperactivity, impulsivity, and social interaction challenges, may be observed.
  • Medical conditions: Additional medical conditions can be associated with Kleefstra Syndrome, including seizures, low muscle tone, and heart abnormalities.

Individuals with Kleefstra Syndrome can thrive and achieve their potential with appropriate support and understanding. 

 

This post was originally published on July 11, 2023. It was updated on Nov. 6, 2023.

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