Kleefstra syndrome 2

Kleefstra syndrome-2 (KLEFS2) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variably impaired intellectual development, and mild dysmorphic features [3]. This condition affects various aspects of a person's life, including their physical appearance, cognitive abilities, and communication skills.

Some common symptoms associated with Kleefstra syndrome-2 include:

• Delayed motor development
• Variable intellectual disability
• Mild dysmorphic features (physical characteristics that are slightly different from typical)
• Communication difficulties

It is essential to note that the severity of these symptoms can vary widely among individuals with Kleefstra syndrome-2, and each person's experience may be unique [13]. The variation in symptoms may be due in part to the number of damaged or deleted genes in the 9q34.3 region.

Kleefstra syndrome-2 is a rare genetic condition that affects development and involves many body systems. People with Kleefstra syndrome usually have distinct facial features, developmental delay, intellectual disability, low muscle tone, and communication difficulties [4]. The condition is caused by a mutation in a gene called EHMT1 or the deletion of a specific region of chromosome 9 that includes this gene.

References: [3] Koemans et al. (2017) - Summary of Kleefstra syndrome-2 [4] Description of Kleefstra syndrome [13] Official recognition of Kleefstra syndrome

Kleefstra Syndrome 2 (KLEFS2) is a rare genetic disorder characterized by various signs and symptoms that can affect individuals from birth to adulthood.

Common Signs and Symptoms:

• Developmental Delays: Individuals with KLEFS2 often experience delayed psychomotor development, which can manifest as delays in crawling, walking, or talking [1].
• Intellectual Disability: Many people with KLEFS2 have intellectual disabilities, ranging from mild to severe [2].
• Seizures and Abnormal EEG: Some individuals may experience seizures or abnormal electroencephalogram (EEG) readings [3].
• Low Muscle Tone: Childhood hypotonia is a common feature of KLEFS2, which can lead to feeding difficulties and other motor skill delays [4].
• Unusual Physical Features: Individuals with KLEFS2 may have distinctive facial features or other physical characteristics that are not typically found in the general population [5].

Additional Symptoms:

• Autistic Behavior: Some people with KLEFS2 may exhibit autistic behavior, such as delayed speech and language development, global developmental delay, or self-injurious behavior [6].
• Speech Delay: Severely delayed or absent speech is a common symptom of KLEFS2 [7].

Early Indicators:

• In some cases, signs of KLEFS2 can be observed immediately after birth, including weak cry, feeding difficulties, and unusual facial features [8].

It's essential to note that the severity and presentation of KLEFS2 can vary significantly among individuals. A comprehensive diagnosis by a qualified healthcare professional is necessary for accurate identification and management of this condition.

References:

[1] - Context 1: Aug 25, 2023 [2] - Context 2: Jan 1, 2016 [3] - Context 3 [4] - Context 7 [5] - Context 9 [6] - Context 3 [7] - Context 5 [8] - Context 7

Kleefstra Syndrome 2 (KLEFS2) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variably impaired intellectual development, and mild dysmorphic features [4]. To diagnose Kleefstra Syndrome 2, the following diagnostic tests can be considered:

• Genetic testing: Chromosomal microarray analysis or whole exome sequencing can identify deletions or mutations in the EHMT1 gene, which is associated with Kleefstra Syndrome 2 [13].
• Intellectual disability gene panels: This type of genetic testing can also help identify the characteristic deletion in chromosome 9 or variants in the EHMT1 gene [1].
• Whole genome sequencing: This test can also be used to identify deletions or mutations in the EHMT1 gene, which is associated with Kleefstra Syndrome 2 [13].

It's worth noting that targeted genetic testing is possible for individuals suspected of having Kleefstra Syndrome 2. Additionally, a clinical evaluation and medical history are essential components of diagnosing this condition.

In terms of specific diagnostic procedures, magnetic resonance imaging (MRI) may be used to create two- and three-dimensional images of the individual's brain and other organs [3]. However, this is not a primary diagnostic test for Kleefstra Syndrome 2.

Early diagnosis can facilitate the initiation of appropriate interventions and support services. It's essential to consult with a healthcare professional for medical advice and guidance on diagnosing and managing Kleefstra Syndrome 2.

References: [1] Context result 2 [3] Context result 3 [4] Context result 4 [13] Context result 13

Medication Options for Kleefstra Syndrome 2

Kleefstra syndrome 2 (KLEFS2) is a rare autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, mild dysmorphic features, seizures, behavioral abnormalities, and facial dysmorphisms. While

Kleefstra syndrome 2 (KLEFS2) can be challenging to diagnose due to its overlapping symptoms with other genetic conditions. A differential diagnosis approach is essential to rule out other possible causes.

Some conditions that may be considered in the differential diagnosis of KLEFS2 include:

• Angelman syndrome: This condition also presents with developmental delays, intellectual disability, and speech difficulties. However, facial features such as synophrys (a single eyelid fold) and everted vermilion of the lower lip are typically absent in Angelman syndrome [1].
• Kleefstra syndrome (the original Kleefstra syndrome): This condition shares some similarities with KLEFS2, including developmental delays, intellectual disability, and speech difficulties. However, KLEFS2 is characterized by delayed psychomotor development, variably impaired cognitive function, and mild dysmorphic features [8].
• Autism spectrum disorder: Individuals with KLEFS2 may exhibit symptoms of autism, such as social communication difficulties and repetitive behaviors. However, the presence of developmental delays and intellectual disability in KLEFS2 can help distinguish it from autism spectrum disorder.
• Intellectual disability syndromes: Other genetic conditions that present with intellectual disability, such as Fragile X syndrome or Down syndrome, may be considered in the differential diagnosis.

A comprehensive diagnostic evaluation by a multidisciplinary team of healthcare professionals, including geneticists, neurologists, and psychologists, is essential to accurately diagnose KLEFS2. This evaluation should include a thorough medical history, physical examination, and laboratory tests (such as chromosomal analysis) to rule out other possible causes [9].

References:

[1] Context 1 [8] Context 8 [9] Context 9