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Koolen de Vries syndrome
ICD-10 Codes
Related ICD-10:
Description
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder characterized by various physical and developmental features.
Physical Features
People with KdVS typically have a distinct set of facial features, including a flat face, a short nose, and a small jaw. They may also have weak muscle tone (hypotonia) in childhood, which can improve as they grow older [4].
Developmental Delay and Intellectual Disability
Individuals with KdVS often experience global psychomotor developmental delay from an early age, although the level of developmental delay varies significantly [2]. The majority of individuals function in the mild to moderate range of intellectual disability.
Behavioral Features
People with KdVS are often described as cheerful, sociable, and cooperative. They tend to have a positive disposition and are generally easy-going [5].
Genetic Cause
KdVS is caused by genetic changes, specifically a deletion of a segment of chromosome 17 that contains six genes [6]. This deletion leads to the syndrome's characteristic features.
Other Medical Issues
Individuals with KdVS may experience other medical issues, such as congenital malformations and behavioral features. However, these can vary widely from person to person [5].
Overall, Koolen-de Vries syndrome is a complex genetic disorder that affects various aspects of an individual's life, including their physical appearance, development, behavior, and overall health.
References:
[1] Context result 1 [2] Context result 2 [3] Not applicable (no relevant information in this context) [4] Context result 4 [5] Context result 5 [6] Context result 6
Additional Characteristics
- mild to moderate intellectual disability
- distinct set of facial features
- weak muscle tone (hypotonia)
- global psychomotor developmental delay
- cheerful, sociable, and cooperative behavior
- congenital malformations
Signs and Symptoms
Koolen-de Vries syndrome (KdVS) is a genetic condition that affects development, intelligence, and
Additional Symptoms
- developmental delays
- intellectual disability
Diagnostic Tests
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder that can be diagnosed through various diagnostic tests.
Molecular Genetics Tests
Several molecular genetics tests are used to diagnose KdVS, including:
- Detection of homozygosity: This test detects the presence of two copies of the same deletion or mutation in the 17q21 chromosome (2).
- Methylation analysis: This test analyzes the methylation status of specific genes and regions in the genome (2).
- Deletion/duplication analysis: This test identifies deletions or duplications of genetic material in the 17q21 chromosome, which is a hallmark of KdVS (29).
- Sequence analysis of the entire coding region: This test analyzes the sequence of the entire coding region of the SH2B1 gene to identify any mutations or variations (4).
Clinical Evaluation
In addition to molecular genetics tests, clinical evaluation is also an essential part of diagnosing KdVS. This includes:
- Developmental evaluation: Assessing developmental milestones and delays in children with suspected KdVS.
- Feeding assessment: Evaluating feeding difficulties and gastrointestinal issues in individuals with KdVS.
- Speech and language testing: Assessing speech and language development in children with suspected KdVS.
- Hearing test: Evaluating hearing thresholds in individuals with KdVS.
- Kidney ultrasound: Imaging the kidneys to rule out any structural abnormalities.
- Heart evaluation: Assessing cardiac function and structure in individuals with KdVS.
Genetic Testing
Genetic testing is a crucial part of diagnosing KdVS. This includes:
- Blood test: Collecting blood samples from affected individuals or family members to analyze for genetic mutations.
- Buccal swab: Collecting buccal cells (cheek cells) from affected individuals or family members to analyze for genetic mutations.
These diagnostic tests can help establish a diagnosis of Koolen-de Vries syndrome in an individual with suspected symptoms.
Additional Diagnostic Tests
- Heart evaluation
- Buccal swab
- Hearing test
- Sequence analysis of the entire coding region
- Blood test
- duplication analysis
- Detection of homozygosity
- Methylation analysis
- Developmental evaluation
- Feeding assessment
- Speech and language testing
- Kidney ultrasound
Treatment
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and other systemic features.
Treatment Overview
While there is no specific treatment for KdVS, various therapies can help manage its symptoms. The primary goal of treatment is to address the associated conditions, such as seizures, developmental delays, and physical disabilities.
- Antiseizure Medication: Seizures are usually treated with antiepileptic medications, which may be needed for a limited period during childhood [3][4].
- Therapy with Levetiracetam: In some cases, therapy with levetiracetam has shown relatively low efficacy; however, adding a low dose of topiramate to the anti-seizure medication can achieve complete seizure control [1][6].
Additional Therapies
- Physiotherapy: Early treatment includes physiotherapy for feeding problems and motor delay, followed by physical therapy aimed at strengthening muscles and core strength [2].
- Speech and Language Therapy: Speech and language therapy may be necessary to address communication difficulties [7].
It is essential to note that each individual with KdVS may require a unique treatment plan, tailored to their specific needs. A multidisciplinary team of healthcare professionals, including neurologists, physical therapists, speech-language pathologists, and other specialists, can provide comprehensive care.
References:
[1] Jun 1, 2021 — Therapy with Levetiracetam showed a relatively lack of efficacy, while adding a low dose of Topiramate in the therapy allowed the complete seizures control. [2] The earliest treatment is physiotherapy for feeding problems and motor delay, followed by physical therapy aimed at strengthening the muscles and core strength. [3] Antiseizure Medication. Seizures are usually treated with these medicines. In many cases, they are only needed for a limited period during childhood. After this ... [4] One affected infant with seizures had a partial response to levetiracetam, but complete control was achieved when topiramate was added to the anti-seizure ... [5] A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, ... [6] by P Paolo · 2021 · Cited by 1 — Therapy with Levetiracetam showed a relatively lack of efficacy, while adding a low dose of Topiramate in the therapy allowed the complete seizures control. [7] Treatment by urologist, if indicated. Seizures. Standard treatment / routine antiepileptic drugs under care of neurologist. Speech & language. • Speech ...
Recommended Medications
- Antiseizure Medication
- Therapy with Levetiracetam and Topiramate
- topiramate
💊 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
Understanding Differential Diagnosis in Koolen-de Vries Syndrome
Differential diagnosis refers to the process of ruling out other possible conditions that may present with similar symptoms, in order to arrive at a definitive diagnosis. In the case of Koolen-de Vries syndrome (KdVS), differential diagnosis is crucial to distinguish it from other disorders that may share similar characteristics.
Common Findings in KdVS
According to various sources [1, 4, 6], the most common findings in KdVS include:
- Developmental delay
- Childhood hypotonia (low muscle tone)
- Dysmorphisms (abnormal physical features)
These symptoms are also commonly found in other disorders, making differential diagnosis essential.
Differential Diagnosis of KdVS
The differential diagnosis of KdVS involves considering other conditions that may present with similar symptoms. Some of the conditions that need to be ruled out include:
- Other genetic syndromes, such as intellectual disability and developmental delay
- Neurological disorders, such as cerebral palsy and epilepsy
- Metabolic disorders, such as phenylketonuria (PKU) and maple syrup urine disease (MSUD)
Genetic Testing for KdVS
The diagnosis of KdVS is confirmed through genetic testing [5]. This involves analyzing the KANSL1 gene or the loss of a small amount of genetic material in chromosome 17 that includes the KANSL1 gene.
Importance of Differential Diagnosis
Differential diagnosis is essential in the diagnosis of KdVS, as it helps to rule out other conditions that may present with similar symptoms. This ensures that patients receive an accurate diagnosis and appropriate treatment.
References:
[1] Mar 1, 2013 — Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. [4] Koolen-de Vries syndrome (KdVS) is characterized by developmental delay / intellectual disability, neonatal/childhood hypotonia, dysmorphisms, ... [6] Differential Diagnosis The most common findings in Koolen-de Vries syndrome (KdVS), developmental delay and childhood hypotonia, are common and relatively ...
Additional Differential Diagnoses
- Metabolic disorders
- Neurological disorders
- Other genetic syndromes
Additional Information
- core#notation
- DOID:0050880
- rdf-schema#label
- Koolen de Vries syndrome
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- t336758
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- rdf-schema#domain
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- owl#annotatedSource
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- relatedICD
- http://example.org/icd10/R94.112
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- disease_ontology
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- 2014-08-06T12:57:12Z
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- oboInOwl#hasDbXref
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- Koolen-De Vries syndrome
- IAO_0000115
- A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- RO_0002452
- http://purl.obolibrary.org/obo/SYMP_0000094
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
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