ICD-10: Q87.86

Kleefstra syndrome, classified under ICD-10 code Q87.86, is a rare genetic disorder characterized by a range of developmental and physical anomalies. This syndrome is primarily associated with mutations in the EHMT1 gene, which plays a crucial role in chromatin remodeling and gene expression regulation. Below is a detailed clinical description and relevant information regarding Kleefstra syndrome.

Clinical Features

Developmental Delays

Individuals with Kleefstra syndrome often exhibit significant developmental delays, particularly in speech and motor skills. These delays can vary widely among affected individuals, with some achieving milestones later than their peers.

Intellectual Disability

Cognitive impairment is common, with many individuals experiencing mild to moderate intellectual disability. The degree of intellectual disability can vary, and some individuals may have specific learning difficulties.

Distinctive Facial Features

Patients with Kleefstra syndrome may present with characteristic facial features, including:
- A broad forehead
- Downturned corners of the mouth
- A prominent nasal bridge
- Wide-set eyes
- A small chin

These features can contribute to a recognizable appearance among individuals with the syndrome.

Behavioral Issues

Behavioral problems, including autism spectrum disorders, attention deficit hyperactivity disorder (ADHD), and anxiety, are frequently reported in individuals with Kleefstra syndrome. These behavioral challenges can impact social interactions and daily functioning.

Other Physical Anomalies

Kleefstra syndrome may also be associated with various physical anomalies, such as:
- Congenital heart defects
- Renal abnormalities
- Skeletal malformations
- Short stature

Hypotonia

Many affected individuals exhibit hypotonia (decreased muscle tone), which can affect their ability to perform physical activities and may contribute to delays in motor development.

Genetic Basis

Kleefstra syndrome is primarily caused by deletions or mutations in the EHMT1 gene located on chromosome 9. This gene is essential for normal brain development and function. Genetic testing can confirm the diagnosis by identifying these specific mutations.

Diagnosis

Diagnosis of Kleefstra syndrome typically involves a combination of clinical evaluation and genetic testing. Healthcare providers may assess developmental milestones, physical features, and family history. Genetic testing can provide definitive confirmation of the syndrome.

Management and Support

While there is no cure for Kleefstra syndrome, management focuses on addressing the individual needs of affected individuals. This may include:
- Early intervention programs to support developmental delays
- Speech and occupational therapy
- Educational support tailored to the individual's learning needs
- Behavioral therapy to address social and emotional challenges

Conclusion

Kleefstra syndrome is a complex genetic disorder with a spectrum of clinical features, including developmental delays, intellectual disability, and distinctive physical characteristics. Early diagnosis and a multidisciplinary approach to management can significantly improve the quality of life for individuals affected by this syndrome. Ongoing research into the genetic underpinnings of Kleefstra syndrome may provide further insights into effective interventions and support strategies in the future.

Kleefstra syndrome is a rare genetic disorder characterized by a distinct set of clinical features and symptoms. It is associated with a deletion or mutation in the EHMT1 gene, which plays a crucial role in chromatin remodeling and gene expression. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with Kleefstra syndrome, corresponding to the ICD-10-CM code Q87.86.

Clinical Presentation

Kleefstra syndrome typically presents in early childhood, and its symptoms can vary widely among affected individuals. The syndrome is primarily characterized by developmental delays, intellectual disabilities, and distinctive physical features.

Signs and Symptoms

1. Developmental Delays:
   - Children with Kleefstra syndrome often exhibit significant delays in reaching developmental milestones, including speech and motor skills. Many may not achieve independent walking or may have limited verbal communication abilities[1].

2. Intellectual Disability:
   - Most individuals with this syndrome experience varying degrees of intellectual disability, which can range from mild to moderate[1][2].

3. Distinctive Facial Features:
   - Patients may present with specific facial characteristics, including:

   • A broad forehead
   • Downturned corners of the mouth
   • A prominent nasal bridge
   • Wide-set eyes
   • A small chin[1][3].

4. Hypotonia:
   - Many affected individuals exhibit hypotonia (decreased muscle tone), which can contribute to motor delays and difficulties with coordination[2].

5. Behavioral Issues:
   - Some children may display behavioral problems, including autism spectrum disorder traits, anxiety, and attention-deficit/hyperactivity disorder (ADHD)[2][3].

6. Sleep Disturbances:
   - Sleep issues, such as insomnia or irregular sleep patterns, are common among individuals with Kleefstra syndrome[2].

7. Congenital Anomalies:
   - Some patients may have congenital anomalies, including heart defects, kidney abnormalities, or skeletal issues[1][3].

Patient Characteristics

• Age of Onset: Symptoms of Kleefstra syndrome are typically recognized in infancy or early childhood, often during routine developmental screenings[1].
• Gender: The syndrome appears to affect both males and females equally, although some studies suggest a slight male predominance[2].
• Genetic Testing: Diagnosis is often confirmed through genetic testing, which can identify deletions or mutations in the EHMT1 gene. This testing is crucial for accurate diagnosis and management[3].

Conclusion

Kleefstra syndrome is a complex genetic disorder with a range of clinical presentations. The combination of developmental delays, intellectual disabilities, distinctive facial features, and potential behavioral issues makes early diagnosis and intervention essential for improving outcomes. Genetic counseling may also be beneficial for families affected by this syndrome, providing support and information about the condition and its implications. As research continues, further insights into the management and support for individuals with Kleefstra syndrome are expected to emerge, enhancing the quality of life for those affected.

For healthcare providers, recognizing the signs and symptoms associated with ICD-10 code Q87.86 is vital for timely diagnosis and appropriate care planning.

Kleefstra syndrome, classified under the ICD-10-CM code Q87.86, is a rare genetic disorder characterized by distinct physical features, developmental delays, and various health issues. Understanding alternative names and related terms for this syndrome can enhance awareness and facilitate communication among healthcare professionals and researchers.

Alternative Names for Kleefstra Syndrome

1. Kleefstra Syndrome: The primary name used in medical literature and clinical settings.
2. Kleefstra Syndrome 1: Sometimes used to denote the specific genetic variant associated with the condition.
3. Kleefstra Syndrome Type 1: This term may be used interchangeably with Kleefstra Syndrome, particularly in genetic studies.

Related Terms

1. Congenital Malformation Syndromes: Kleefstra syndrome falls under this broader category, which includes various syndromes characterized by congenital anomalies.
2. Intellectual Disability: Many individuals with Kleefstra syndrome experience varying degrees of intellectual disability, making this term relevant in discussions about the syndrome.
3. Developmental Delay: This term is often associated with Kleefstra syndrome, as affected individuals typically show delays in reaching developmental milestones.
4. Genetic Disorders: Kleefstra syndrome is a genetic disorder caused by mutations in the EHMT1 gene, linking it to discussions about genetic conditions.
5. Rare Diseases: As a rare genetic syndrome, Kleefstra syndrome is often discussed in the context of rare diseases, which may include advocacy and research efforts.

Conclusion

Kleefstra syndrome is recognized by its primary name and several alternative terms that reflect its genetic basis and associated health challenges. Understanding these terms is crucial for healthcare providers, researchers, and families affected by the syndrome, as it aids in accurate diagnosis, treatment planning, and support. If you have further questions or need more specific information, feel free to ask!

Kleefstra syndrome is a rare genetic disorder characterized by a range of developmental and physical features. The diagnosis of Kleefstra syndrome, which is classified under ICD-10 code Q87.86, involves several criteria based on clinical evaluation, genetic testing, and the presence of specific symptoms. Below is a detailed overview of the diagnostic criteria and considerations for Kleefstra syndrome.

Clinical Features

1. Developmental Delays

Individuals with Kleefstra syndrome often exhibit significant developmental delays, particularly in speech and motor skills. These delays can vary widely among affected individuals.

2. Intellectual Disability

Most patients present with some degree of intellectual disability, which can range from mild to moderate. Cognitive assessments are typically used to evaluate the level of intellectual functioning.

3. Distinctive Facial Features

Kleefstra syndrome is associated with specific facial characteristics, which may include:
- A broad forehead
- Downslanting palpebral fissures
- A flat nasal bridge
- Full cheeks
- A thin upper lip

4. Hypotonia

Many individuals with Kleefstra syndrome exhibit hypotonia (decreased muscle tone), which can affect their motor skills and overall physical development.

5. Behavioral Issues

Behavioral problems, including autism spectrum disorder traits, are common in individuals with Kleefstra syndrome. These may manifest as social difficulties or repetitive behaviors.

Genetic Testing

1. Chromosomal Microarray Analysis

The definitive diagnosis of Kleefstra syndrome is often confirmed through genetic testing, particularly chromosomal microarray analysis. This test can identify deletions or mutations in the EHMT1 gene, which is commonly associated with the syndrome.

2. Targeted Genetic Testing

In some cases, targeted genetic testing for known mutations in the EHMT1 gene may be performed if a chromosomal microarray does not yield conclusive results.

Family History and Clinical Evaluation

1. Family History

A detailed family history may provide insights into the genetic background of the individual, especially if there are other family members with similar developmental issues or genetic conditions.

2. Multidisciplinary Assessment

A comprehensive evaluation by a multidisciplinary team, including pediatricians, geneticists, neurologists, and developmental specialists, is essential for a thorough assessment of the individual’s condition.

Conclusion

The diagnosis of Kleefstra syndrome (ICD-10 code Q87.86) is based on a combination of clinical features, developmental assessments, and genetic testing. The presence of characteristic symptoms, along with confirmation through genetic analysis, plays a crucial role in establishing the diagnosis. Early identification and intervention can significantly improve the quality of life for individuals with this syndrome, making awareness and understanding of the diagnostic criteria essential for healthcare providers.

Kleefstra syndrome, associated with ICD-10 code Q87.86, is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and various physical health issues. The syndrome is primarily caused by deletions or mutations in the EHMT1 gene, which plays a crucial role in chromatin remodeling and gene expression regulation. Given the complexity of the syndrome, treatment approaches are multidisciplinary and tailored to the individual needs of the patient.

Standard Treatment Approaches

1. Medical Management

• Regular Health Monitoring: Patients with Kleefstra syndrome often experience various health issues, including cardiac problems, obesity, and sleep apnea. Regular check-ups with healthcare providers are essential to monitor and manage these conditions effectively[1].
• Medication: Depending on the symptoms, medications may be prescribed to manage specific issues such as seizures, behavioral problems, or other associated health conditions. For instance, antiepileptic drugs may be necessary if the patient experiences seizures[1].

2. Therapeutic Interventions

• Physical Therapy: Many individuals with Kleefstra syndrome may have motor delays or difficulties. Physical therapy can help improve strength, coordination, and mobility, enhancing overall physical function[1].
• Occupational Therapy: This therapy focuses on improving daily living skills and promoting independence. Occupational therapists can work with patients to develop strategies for tasks such as dressing, eating, and personal hygiene[1].
• Speech Therapy: Given the communication challenges often faced by individuals with Kleefstra syndrome, speech therapy can be beneficial. It helps improve verbal communication skills and may also address feeding difficulties[1].

3. Educational Support

• Special Education Services: Children with Kleefstra syndrome typically benefit from individualized education programs (IEPs) tailored to their specific learning needs. These programs may include specialized teaching methods and accommodations to support their learning[1].
• Behavioral Therapy: Behavioral interventions can help manage any behavioral issues and improve social skills. Techniques such as Applied Behavior Analysis (ABA) may be employed to encourage positive behaviors and reduce challenging ones[1].

4. Genetic Counseling

• Family Support and Education: Genetic counseling is crucial for families affected by Kleefstra syndrome. Counselors can provide information about the genetic aspects of the disorder, implications for family planning, and support resources available for families[1].

5. Support Groups and Resources

• Community Support: Connecting with support groups can provide families with valuable resources, emotional support, and shared experiences from others facing similar challenges. Organizations focused on rare genetic disorders often offer information and community connections[1].

Conclusion

Kleefstra syndrome requires a comprehensive and individualized approach to treatment, focusing on medical management, therapeutic interventions, educational support, and genetic counseling. By addressing the various aspects of the syndrome, healthcare providers can help improve the quality of life for individuals affected by this condition. Ongoing research and awareness are essential for developing better treatment strategies and support systems for those impacted by Kleefstra syndrome.