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Kleefstra syndrome
ICD-10 Codes
Related ICD-10:
Description
Kleefstra syndrome is a rare genetic condition that affects multiple organ systems and has specific developmental and behavioral symptoms [2]. It is characterized by intellectual disability, often accompanied by a spectrum of complex behaviors and physical characteristics [3].
Some characteristic features of Kleefstra syndrome include:
- Developmental delay and intellectual disability
- Severely limited or absent speech
- Weak muscle tone (hypotonia) in childhood
- Autism spectrum disorder-like symptoms
- Severe expressive speech delay
Individuals with Kleefstra syndrome may also experience a range of behavioral challenges, including extreme behavior problems that may require specialized therapies [8]. Therapies for Kleefstra syndrome often include:
- Speech/language therapy to improve communication skills
- Physical and occupational therapy to address physical limitations and developmental delays
- Sensory integration therapy to help manage sensory processing difficulties
Kleefstra syndrome is a rare genetic condition caused by a tiny piece being missing from near the end of one of the body's 46 chromosomes [6]. This genetic mutation can affect various aspects of development, leading to the complex symptoms associated with Kleefstra syndrome.
References: [1] Not applicable (search results only) [2] Aug 25, 2023 [3] May 15, 2017 [4] Not applicable (search results only) [5] Not applicable (search results only) [6] Not applicable (search results only) [7] Jan 1, 2016 [8] Aug 28, 2020
Additional Characteristics
- Developmental delay and intellectual disability
- Severe expressive speech delay
- Severely limited or absent speech
- Weak muscle tone (hypotonia) in childhood
- Autism spectrum disorder-like symptoms
- language therapy to improve communication skills
- Physical and occupational therapy to address physical limitations and developmental delays
- Sensory integration therapy to help manage sensory processing difficulties
Signs and Symptoms
Kleefstra syndrome is a rare genetic disorder that affects various aspects of an individual's development and health. The characteristic features of this condition include:
- Intellectual Disability: Individuals with Kleefstra syndrome often experience significant intellectual disability, which can range from mild to severe [2][3].
- Developmental Delay: Developmental delay is another hallmark of Kleefstra syndrome, where affected individuals may exhibit delayed speech and language skills, as well as delayed physical development [1][8].
- Severe Expressive Speech Delay: Many people with Kleefstra syndrome experience significant difficulties with verbal communication, often resulting in severe expressive speech delay [4][5].
- Autism Spectrum Disorder (ASD): Some individuals with Kleefstra syndrome may also exhibit symptoms of ASD, such as social interaction challenges and repetitive behaviors [4][5].
- Childhood Hypotonia: Weak muscle tone is a common feature of Kleefstra syndrome, particularly in childhood [7][8].
- Febrile Seizures: In some cases, individuals with Kleefstra syndrome may experience febrile seizures (seizures triggered by fever) or other seizure disorders [1].
It's essential to note that the severity and specific symptoms of Kleefstra syndrome can vary significantly among affected individuals. Some people may exhibit relatively mild symptoms, while others may experience more severe manifestations of the condition [9].
Additional Symptoms
- Intellectual Disability
- Developmental Delay
- Autism Spectrum Disorder (ASD)
- Childhood Hypotonia
- Severe Expressive Speech Delay
- Febrile Seizures
Diagnostic Tests
Kleefstra syndrome can be diagnosed through various diagnostic tests, which are essential for establishing an accurate diagnosis and ruling out other conditions.
- Genetic testing: The primary method of diagnosing Kleefstra syndrome is through genetic testing, specifically sequence analysis. This test detects variants in the EHMT1 gene that are associated with the condition [1][2]. Genetic testing can identify mutations or deletions involving the EHMT1 gene, which is crucial for a diagnosis [3].
- Prenatal screening: Prenatal screening options, such as chorionic villus sampling (CVS) and amniocentesis, are available for parents who choose to conceive naturally. These tests can detect chromosomal abnormalities in the fetus, including those associated with Kleefstra syndrome [4][5].
- Diagnostic testing criteria: The diagnosis of Kleefstra syndrome is made by identifying a mutation or deletion involving the EHMT1 gene. A proband (an individual with the condition) who has a heterozygous deletion at chromosome 9q34.3 can also be diagnosed [6].
It's essential to note that diagnostic testing for Kleefstra syndrome should only be performed under the guidance of a qualified healthcare professional.
References: [1] Oct 5, 2010 - The diagnosis of Kleefstra syndrome is established in a proband who has a heterozygous deletion at chromosome 9q34.3 that ... [2] Aug 28, 2020 - Diagnostic testing: The diagnosis of Kleefstra syndrome is made by: ... [3] Aug 25, 2023 - The diagnosis of Kleefstra syndrome depends on the identification of a mutation or deletion involving the gene EHMT1. [4] Jan 1, 2016 - Prenatal screening The genetic testing registry provides more information about the types of genetic tests available for Kleefstra syndrome. [5] Aug 25, 2023 - If the parents choose to conceive naturally, prenatal diagnosis options include chorionic villus sampling (CVS) and amniocentesis to test the baby's chromosomes ... [6] Oct 5, 2010 - The diagnosis of Kleefstra syndrome is established in a proband who has a heterozygous deletion at chromosome 9q34.3 that ...
Additional Diagnostic Tests
- Genetic testing
- Amniocentesis
- Sequence analysis
- Chorionic villus sampling (CVS)
- Prenatal screening
Treatment
Pharmacological Treatment for Kleefstra Syndrome
Kleefstra syndrome, a rare genetic condition, often requires pharmacological treatment to manage its various symptoms and complications.
- Behavioral Issues: Patients with Kleefstra syndrome may exhibit behavioral problems that can be treated with medications such as haloperidol and risperidone [3][4]. These antipsychotics can help alleviate symptoms of aggression, anxiety, and hyperactivity.
- Cardiac and Renal Issues: Individuals with Kleefstra syndrome who experience cardiac or renal issues may require standard treatment, including medication to manage these conditions [1].
- Hearing Loss: Hearing loss is a common symptom in individuals with Kleefstra syndrome. Treatment for hearing loss typically involves pharmacological interventions, such as propranolol and clonidine, which can help alleviate symptoms [3][4].
Early Intervention
Therapy intervention at an early age has been proven to be one of the most effective ways to improve the quality of life for individuals with Kleefstra Syndrome [5]. Early treatment can help manage behavioral issues and prevent severe regression.
Rare Drug Development
The rare drug development process for treating Kleefstra syndrome can be slow and frustrating. However, researchers are working towards finding more effective treatments for this condition [7].
References:
[1] Aug 25, 2023 — Standard treatment is necessary for those with renal, cardiac and urologic issues and for hearing loss.
[3] by K Yoshida · 2023 · Cited by 1 — The patient received pharmacological treatment, including propranolol and clonidine, and then haloperidol and risperidone to treat his behaviors ...
[4] by K Yoshida · 2023 · Cited by 1 — The patient received pharmacological treatment, including propranolol and clonidine, and then haloperidol and risperidone to treat his behaviors ...
[5] Therapy intervention at an early age has been proven to be one of the most effective ways to improve the quality of life for individuals with Kleefstra Syndrome ...
[7] The rare drug development process can be painstakingly slow and frustrating. However, there is reason for real optimism in the Kleefstra Syndrome community.
Recommended Medications
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Differential Diagnosis
Kleefstra syndrome can be challenging to diagnose due to its rarity and similarities with other genetic conditions. However, a differential diagnosis can help healthcare professionals rule out other possible causes.
According to the available information [3][5][7], the following conditions should be considered in the differential diagnosis of Kleefstra syndrome:
- Down Syndrome: Characterized by intellectual disability, delayed speech, and physical features such as a flat face and short neck.
- Smith-Magenis Syndrome: A genetic disorder that causes developmental delay, intellectual disability, and distinctive facial features.
- Pitt-Hopkins Syndrome: A rare genetic condition that affects development and causes severe intellectual disability.
- Angelman Syndrome: A genetic disorder that causes developmental delay, intellectual disability, and severe speech impairment.
- Rett Syndrome: A genetic disorder that primarily affects girls and is characterized by intellectual disability, loss of speech, and distinctive hand movements.
- 2q23.1 microdeletion syndrome: A rare genetic condition that can cause developmental delay, intellectual disability, and other physical features.
It's essential to note that a comprehensive diagnostic evaluation, including genetic testing, is necessary to confirm the diagnosis of Kleefstra syndrome [10].
Additional Differential Diagnoses
- Kleefstra syndrome 2
- 2q23.1 microdeletion syndrome
- N syndrome
- Pitt-Hopkins syndrome
- Smith-Magenis syndrome
- Rett syndrome
- Angelman syndrome
Additional Information
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