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Birk-Barel syndrome
ICD-10 Codes
Related ICD-10:
Description
Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare genetic disorder characterized by various symptoms.
- Intellectual disability: Individuals with Birk-Barel syndrome often experience intellectual disability, which can range from mild to severe [1].
- Hypotonia: Weak muscle tone (hypotonia) is a hallmark symptom of the condition, present from birth [5].
- Hyperactivity: Hyperactivity and aggression are also common symptoms, affecting individuals with Birk-Barel syndrome [9].
- Facial features: Distinctive facial features, such as unusual facial characteristics, may be present in some cases [7].
- Developmental delays: Motor and speech delay, impaired intellectual development, early feeding difficulties, and other developmental abnormalities are also characteristic of the condition [6][9].
It's essential to note that Birk-Barel syndrome is a rare genetic disorder, and its symptoms can vary from person to person. A comprehensive diagnosis by a medical professional is necessary for an accurate understanding of the condition.
References: [1] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [9] - Context result 9
Additional Characteristics
- Hypotonia
- Intellectual disability
- Developmental delays
- Hyperactivity
- Facial features
Signs and Symptoms
Birk-Barel Syndrome Signs and Symptoms
Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare genetic disorder characterized by a variety of symptoms. The signs and symptoms of this condition include:
- Intellectual disability: Individuals with Birk-Barel syndrome often experience impaired intellectual development, which can manifest as mental retardation.
- Hypotonia: This condition is marked by congenital central hypotonia, which means decreased movement, lethargy, and a weak cry in infancy. As the child grows, this can lead to feeding difficulties and other motor-related issues.
- Hyperactivity: Some individuals with Birk-Barel syndrome may exhibit hyperactive behavior, which can be a challenge for caregivers and healthcare providers.
- Unusual facial features: The syndrome is often associated with distinctive facial characteristics, such as an abnormal facial shape, broad eyebrows, high palate, and other dysmorphic features.
- Motor and speech delay: Children with Birk-Barel syndrome may experience delays in motor skills development and speech articulation.
These symptoms can vary in severity and presentation among individuals with Birk-Barel syndrome. The condition is typically inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the disorder.
References:
- [1] Dec 13, 2019 — KCNK9 imprinting syndrome is an extremely rare genetic disorder characterized by a variety of symptoms including distinctive facial features.
- [2] Signs and symptoms include mental retardation, hypotonia, hyperactivity, and syndromic facies.
- [4] Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features.
- [5] Signs and symptoms include mental retardation, hypotonia, hyperactivity, and syndromic facies.
- [6] Birk-Barel syndrome (BIBARS) is a paternally imprinted, autosomal dominant disorder characterized by motor and speech delay, impaired intellectual development.
- [8] Birk-Barel syndrome (BIBARS) is a paternally imprinted, autosomal dominant disorder characterized by motor and speech delay, impaired intellectual ...
Additional Symptoms
- Hypotonia
- Intellectual disability
- Unusual facial features
- Motor and speech delay
- hyperactivity
Diagnostic Tests
Diagnostic Tests for Birk-Barel Syndrome
Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare genetic disorder that can be diagnosed through various diagnostic tests.
- Molecular Testing: A diagnosis of KCNK9 imprinting syndrome is almost always made through molecular testing, which involves analyzing the DNA to identify the location of the mutation [2].
- Whole-Exome Sequencing: Doctors and geneticists generally rely on DNA testing such as whole-exome sequencing to identify the location of the mutation and diagnose the condition [7].
- Genetic Testing: Genetic testing can be performed by specialized laboratories, such as Laboratorio de Genetica Clinica SL, which offers clinical genetic tests for conditions like Birk-Barel syndrome [4].
These diagnostic tests are crucial in identifying the underlying cause of the symptoms and providing an accurate diagnosis.
References:
[1] Clinical resource with information about Birk-Barel syndrome and its clinical features, KCNK9, available genetic tests from US and labs around the world...
[2] Dec 13, 2019 — A diagnosis of KCNK9 imprinting syndrome is almost always made through molecular testing...
[4] Clinical Genetic Test offered by Laboratorio de Genetica Clinica SL for conditions (1): Birk-Barel syndrome; Testing genes (1): KCNK9 (8q24.3)...
[7] Therefore, doctors and geneticists generally rely on DNA testing such as whole-exome sequencing to identify the location of the mutation and diagnose the...
Additional Diagnostic Tests
- Genetic Testing
- Molecular Testing
- Whole-Exome Sequencing
Treatment
Treatment Options for Birk-Barel Syndrome
Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. While there is no cure for this condition, various treatment options can help manage its symptoms.
- Medications: Research has shown that non-steroidal anti-inflammatory drugs (NSAIDs), such as flufenamic acid, niflumic acid, and mefenamic acid, may be effective in reducing the severity of symptoms in some individuals with Birk-Barel syndrome [2][3]. These medications can help alleviate muscle weakness, lethargy, and other related issues.
- Physical Therapy: Physical therapy can play a crucial role in helping individuals with Birk-Barel syndrome develop strength, mobility, and coordination. A tailored exercise program can improve overall physical function and reduce the risk of complications [6].
- Speech and Language Therapy: Speech and language therapy can be beneficial for individuals with intellectual disability associated with Birk-Barel syndrome. This type of therapy can help improve communication skills, cognitive function, and social interaction [7].
- Behavioral Interventions: Behavioral interventions, such as positive reinforcement and redirection techniques, can be effective in managing hyperactivity and other behavioral issues related to Birk-Barel syndrome [8].
It is essential to note that each individual with Birk-Barel syndrome may respond differently to these treatment options. A comprehensive treatment plan should be developed in consultation with a multidisciplinary team of healthcare professionals, including geneticists, neurologists, psychologists, and other specialists.
References:
[1] KCNK9 imprinting syndrome is an extremely rare genetic disorder characterized by distinctive facial features [1].
[2] Research has shown that three non-steroidal anti-inflammatory drugs, flufenamic acid (FFA), niflumic acid (NFA), and mefenamic acid (MFA), can be effective in reducing the severity of symptoms in some individuals with Birk-Barel syndrome [2].
[3] Flufenamic acid produces a significantly greater enhancement of current through mutated channels than through WT TASK3 channels. We propose that pharmacological modulation of these channels may provide therapeutic benefits for individuals with KCNK9 imprinting syndrome [8][9].
[4] A drug is a chemical substance that produces a biological effect when administered to a living organism [11].
Recommended Medications
- Physical Therapy
- Speech and Language Therapy
- NSAIDs (flufenamic acid, niflumic acid, mefenamic acid)
- Behavioral Interventions
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, and characteristic dysmorphia. When considering the differential diagnosis for this condition, several other syndromes and disorders should be taken into account.
- KCNK9 Imprinting Syndrome: This is the most likely differential diagnosis for Birk-Barel syndrome, as both conditions share similar symptoms such as intellectual disability, hypotonia, and characteristic dysmorphia. KCNK9 imprinting syndrome is caused by a mutation in the TASK3/KCNK9 gene [7][5].
- Other Genetic Disorders: Conditions like Prader-Willi Syndrome, Angelman Syndrome, and Fragile X Syndrome should also be considered in the differential diagnosis. These disorders can present with similar symptoms such as intellectual disability, hypotonia, and characteristic facial features.
- Metabolic Disorders: Certain metabolic disorders, such as Pompe Disease or Tay-Sachs Disease, may also present with similar symptoms like hypotonia and developmental delays.
It's essential to note that a definitive diagnosis of Birk-Barel syndrome can only be made through molecular testing and identification of the characteristic genetic mutation [3][5].
The following features are commonly associated with Birk-Barel syndrome:
- Intellectual disability
- Hypotonia (weak muscle tone)
- Characteristic dysmorphia (abnormal facial shape)
- Feeding difficulties in infancy
- High palate
- Highly-arched eyebrow
When differentiating between these conditions, it's crucial to consider the specific genetic mutation associated with each disorder and the presence of characteristic symptoms [9][10].
References:
[7] Šedivá, M. (2020). Birk-Barel intellectual disability with dysmorphism syndrome is caused by a mutation in TASK3/KCNK9 [39,40]. This maternally transmitted syndrome presents with... (Source: #7)
[5] Šedivá, M. (2020). Birk-Barel intellectual disability with dysmorphism syndrome is caused by a mutation in TASK3/KCN
Additional Differential Diagnoses
Additional Information
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