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Arboleda-Tham syndrome
Description
Arboleda-Tham syndrome, also known as KAT6A syndrome, is a rare genetic disorder characterized by several common features.
- Developmental delay: Individuals with this condition often experience significant delays in their physical and cognitive development [5][13].
- Intellectual disability: Arboleda-Tham syndrome is associated with intellectual disability, which can range from mild to severe [2][4][14].
- Distinct facial features: People with this disorder may have distinct facial features, although these can vary widely among affected individuals [3][5][13].
- Microcephaly: Some individuals with Arboleda-Tham syndrome may experience microcephaly, a condition where the head circumference is smaller than average [2][4].
- Cardiac anomalies: This disorder can also be associated with cardiac anomalies, which can range from mild to severe [2][4].
- Gastrointestinal complications: Gastrointestinal complications are another common feature of Arboleda-Tham syndrome [2][4].
It's worth noting that the clinical presentation of Arboleda-Tham syndrome can vary widely among affected individuals, and not everyone will exhibit all of these features. However, these characteristics are commonly associated with this rare genetic disorder.
References: [1] Kennedy et al., 2019 [2] Jiang et al., 2021 [3] Tham et al., 2015 [4] Bukvic et al., ... [5] Lin et al., 2020 [6] Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo truncating mutations in Lysine(K) acetyltransferase 6A (KAT6A). [7] Multiple congenital defects but no significant syndromes or diseases were impressed. The chromosomal analysis and array comparative genomic hybridization (aCGH) revealed no significant pathogenic changes. Whole Genome Sequencing (WGS) identified a p.Glu1139fs de novo mutation of the KAT6A gene. The patient's phenotype was consistent clinically with Arboleda-Tham ...
Additional Characteristics
- Microcephaly
- Intellectual disability
- Developmental delay
- Distinct facial features
- Cardiac anomalies
- Gastrointestinal complications
Signs and Symptoms
Arboleda-Tham syndrome (ARTHS) is a rare genetic neurodevelopmental disorder characterized by various symptoms. According to the available information, some common traits associated with ARTS include:
- Global developmental delay
- Significant speech and language deficits
- Feeding difficulties
- Constipation
- Acid reflux
- Intellectual disability
Additionally, other reported symptoms of ARTHS include:
- Microcephaly (small head size)
- Seizure disorders
- Frequent infections
- Behavior problems
- Craniosynostosis (premature closure of the skull bones)
- Autism
- Sleep disturbances
- Epilepsy
- Recurrent viral infections
It's worth noting that the severity and presentation of these symptoms can vary widely among individuals with ARTHS. Some people may experience mild symptoms, while others may have more severe impairments.
Sources:
- [1] Common Traits Are: Global developmental delay; Significant speech and language deficits; Feeding difficulties; Constipation. Acid reflux; Intellectual ...
- [4] by N Bukvic · 2023 · Cited by 4 — Arboleda-Tham syndrome is a rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of ...
- [6] Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, ...
- [7] Less common symptoms include craniosynostosis, autism, sleep disturbance, epilepsy, recurrent viral infections.
- [9] Common symptoms include varying degrees of intellectual disability, delays in reaching developmental milestones (developmental delays), delays in being able to ...
Additional Symptoms
- Global developmental delay
- Feeding difficulties
- Craniosynostosis
- Microcephaly
- Intellectual disability
- Autism
- Sleep disturbances
- Epilepsy
- Acid reflux
- Frequent infections
- Significant speech and language deficits
- Behavior problems
- Recurrent viral infections
- seizure
- constipation
Diagnostic Tests
Arboleda-Tham syndrome, also known as KAT6A syndrome, is a rare genetic disorder caused by mutations in the KAT6A gene. Diagnostic tests for this condition are crucial for accurate diagnosis and management.
Laboratory Tests
- Whole Genome Sequencing (WGS) can identify pathogenic variants in the KAT6A gene, confirming the diagnosis of Arboleda-Tham syndrome [1].
- Routine laboratory tests, including blood-urine tandem mass spectrometry, may be performed to rule out other conditions and support the diagnosis [8].
Imaging Studies
- Imaging studies, such as cardioechograms, may reveal cardiac anomalies associated with Arboleda-Tham syndrome [11].
Clinical Exome Sequencing (CES)
- CES can also be used to diagnose Arboleda-Tham syndrome by identifying pathogenic variants in the KAT6A gene [13].
It's essential to note that a diagnosis of Arboleda-Tham syndrome is typically made based on a combination of clinical evaluation, laboratory tests, and genetic analysis.
References: [1] - Context 2 [8] - Context 8 [11] - Context 11 [13] - Context 13
Additional Diagnostic Tests
- Imaging studies
- Whole Genome Sequencing (WGS)
- Routine laboratory tests
- Clinical Exome Sequencing (CES)
Treatment
Current Treatment Options for Arboleda-Tham Syndrome
Arboleda-Tham syndrome (ARTHS) is a rare genetic neurodevelopmental disorder characterized by global developmental delay, speech delay, microcephaly, and intellectual disability. While there is no cure for ARTHS, various treatment options are available to manage its symptoms and improve the quality of life for affected individuals.
- Rehabilitation Therapy: Early intervention with rehabilitation therapy, such as physical, occupational, and speech therapy, can help improve oro-motor dyspraxia, articulation, and overall developmental outcomes [2].
- Nutritional Intervention: Proper nutrition is essential for individuals with ARTHS. A balanced diet that meets their nutritional needs can help support growth and development [7].
- Multidisciplinary Approach: Management of ARTHS requires a multidisciplinary approach involving healthcare professionals from various specialties, including neurology, genetics, psychology, and rehabilitation medicine [2].
Emerging Therapeutic Targets
Recent studies have identified potential therapeutic targets for ARTHS. The PI3K-Akt-mTOR pathway has been implicated in the pathogenesis of ARTHS, and research is ongoing to explore its role as a possible therapeutic site [9]. Additionally, the drug rapamycin has been investigated as a potential treatment option for ARTHS [9].
Current Research and Future Directions
While these findings hold promise, more research is needed to fully understand the underlying mechanisms of ARTHS and to develop effective treatments. Ongoing studies are investigating various therapeutic approaches, including pharmacological interventions and gene therapy.
References:
[2] Bukvic N (2023) Arboleda-Tham syndrome: a rare genetic neurodevelopmental disorder [4]
[7] Jiang M (2021) Rehabilitation and nutritional intervention in ARTHS [6]
[9] Jun 17, 2024 - Emerging therapeutic targets for ARTHS [9]
Note: The numbers in square brackets refer to the corresponding search results provided in the context.
Recommended Medications
- Rehabilitation Therapy
- Rapamycin
- Nutritional Intervention
- Multidisciplinary Approach
💊 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
Arboleda-Tham syndrome (ARTHS) has an extensive differential diagnosis in the context of syndromic developmental delay/intellectual disability (DD/ID). The syndrome's complex presentation can make it challenging to distinguish from other conditions. Here are some key points to consider:
- Intellectual disability and global developmental delay: These symptoms are common in ARTHS, but they can also be present in other syndromes such as KAT6A syndrome, which is another name for Arboleda-Tham Syndrome (ARTHS) [4].
- Craniofacial dysmorphism: This feature is often seen in ARTHS, but it can also be present in other conditions like KAT6A syndrome [4].
- Neonatal hypotonia, epilepsy, vision problems: These symptoms have been reported in some patients with ARTHS, but they are not exclusive to this condition and can also occur in other syndromes [3].
To establish a differential diagnosis for ARTHS, it is essential to consider the following:
- Genetic testing: Genetic analysis of the KAT6A gene can help confirm or rule out ARTHS.
- Clinical evaluation: A thorough clinical examination, including assessment of developmental delay, intellectual disability, and craniofacial features, can aid in differential diagnosis.
- Imaging studies: Imaging techniques such as MRI or CT scans may be necessary to evaluate for associated structural abnormalities.
It is crucial to note that a definitive diagnosis of ARTHS requires genetic confirmation. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, neurologists, and developmental pediatricians, can help establish an accurate differential diagnosis [5].
References:
[3] Q Wang · 2024 [4] M Jiang · 2021 · Cited by 6 [5] by YF Lin · 2020 · Cited by 13
Additional Differential Diagnoses
- Intellectual disability and global developmental delay
- Craniofacial dysmorphism
- Neonatal hypotonia, epilepsy, vision problems
- N syndrome
- Arboleda-Tham syndrome
Additional Information
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- An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.
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