obsolete Koolen-De Vries syndrome

Koolen-De Vries Syndrome (Obsolete): A Rare Genetic Disorder

Koolen-De Vries syndrome, also known as chromosome 17q21.31 deletion syndrome or microdeletion 17q21.31 syndrome, is a rare genetic disorder characterized by various physical and developmental abnormalities.

• Developmental Delay: Individuals with Koolen-De Vries syndrome often experience significant delays in their psychomotor development, which can manifest as intellectual disability of varying levels [5][11].
• Facial Dysmorphisms: The condition is associated with distinctive facial features, including dysmorphic traits that are typical for this syndrome [1][6].
• Congenital Malformations: Some individuals may be born with congenital malformations, such as cardiac and renal defects [1][11].
• Epilepsy and Behavioral Features: Recurrent seizures (epilepsy) and behavioral features are also common in people with Koolen-De Vries syndrome [10][11].

Inheritance Pattern

Koolen-De Vries syndrome is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the condition. Most cases result from a de novo deletion or pathogenic variant in the KANSL1 gene on chromosome 17q21.31 [14].

Prevalence

The prevalence of Koolen-De Vries syndrome is estimated to be around 1 in 16,000 individuals [15].

Koolen-De Vries Syndrome (KdVS) Signs and Symptoms

Koolen-De Vries syndrome, also known as KdVS, is a rare genetic disorder characterized by various signs and symptoms. While the exact prevalence of this condition is unknown, research has identified several common features associated with KdVS.

Common Signs and Symptoms:

• Developmental Delay: Affected individuals often experience global developmental delay or regression, which can manifest as delayed speech, language, and cognitive development [1][2].
• Intellectual Disability: Individuals with KdVS may exhibit mild to moderate intellectual disability, affecting their ability to learn and adapt [3].
• Hypotonia: Muscle weakness or hypotonia is a common feature of KdVS, leading to difficulties with motor skills and coordination [4].
• Epilepsy: Seizures are a potential symptom of KdVS, requiring medical attention and management [5].
• Sleep Disorders: Some individuals with KdVS may experience sleep disorders, which can impact their overall quality of life [6].
• Feeding Difficulties: Feeding difficulties have been reported in some cases of KdVS, necessitating specialized care and support [7].

Additional Symptoms:

• Ataxia and Dystonia: Individuals with KdVS may experience ataxia (loss of coordination) and dystonia (muscle contractions leading to repetitive movements) [8].
• Ophthalmologic Abnormalities: Certain eye abnormalities, such as strabismus or other vision problems, have been associated with KdVS [9].

Scoliosis and Hip Dysplasia:

• Scoliosis: Scoliosis is a common feature of KdVS, requiring regular monitoring and potential surgical intervention to correct spinal curvature [10].
• Hip Dysplasia: A higher incidence of hip dysplasia has been noted in individuals with KdVS, particularly those who also experience scoliosis [10].

It's essential to note that each individual with Koolen-De Vries syndrome may exhibit a unique combination of signs and symptoms. If you suspect someone may have this condition, consult with a qualified healthcare professional for an accurate diagnosis and guidance.

References:

[1] - 1. [2] - 2. [3] - 3. [4] - 4. [5] - 5. [6] - 6. [7] - 7. [8] - 8. [9] - 9. [10] - 10.

Diagnostic Tests for Koolen-de Vries Syndrome

Koolen-de Vries syndrome (KdVS) is a genetic disorder that can be diagnosed through various tests. While the diagnostic criteria have evolved over time, some older tests may still be relevant in certain contexts.

• Microarray Comparative Genomic Hybridization (array CGH): This test can show the loss of tiny amounts of DNA from a chromosome or a change in a specific region, which is often associated with KdVS. [9]
• Genetic testing: A genetic test can identify the presence of a heterozygous 500- to 650-kb deletion at chromosome 17q21.31 that includes KANSL1 or a heterozygous intragenic pathogenic variant in KANSL1. [3][8]
• Array CGH test result: A microarray array CGH test result may look something like this: 46,XX.arr 17q21.31(43,568,123-44,236,497)x1 [hg19] 46, indicating the presence of a deletion on chromosome 17. [4]
• Developmental evaluation: This test assesses an individual's developmental progress and can help identify any delays or abnormalities associated with KdVS. [6]

It is essential to note that these tests may not be as commonly used today due to advances in diagnostic techniques and the availability of more specific genetic testing methods.

References:

• [3] Koolen-de Vries Syndrome Review.
• [4] Genetic test results
• [8] Diagnosis/testing he diagnosis of Koolen-de Vries syndrome is established in a proband who has either a heterozygous 500- to 650-kb deletion at chromosome 17q21.31 that includes KANSL1 or a heterozygous intragenic pathogenic variant in KANSL1.
• [9] A technique known as microarray comparative genomic hybridization (array CGH) can show the loss of tiny amounts of DNA from a chromosome or a change in a specific region, which is often associated with KdVS.

Treatment Options for Koolen-de Vries Syndrome

Koolen-de Vries syndrome, a rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, and other symptoms [5]. While there is no cure for the condition, various treatment options are available to manage its symptoms.

Antiseizure Medication

Seizures associated with Koolen-de Vries syndrome can be treated with antiseizure medications. In many cases, these medicines are only needed for a limited period during childhood [3]. The effectiveness of these medications may vary, and in some cases, adding a low dose of Topiramate to the therapy allowed complete control of seizures [4].

Physical Therapy

Early treatment includes physiotherapy for feeding problems and motor delay, followed by physical therapy aimed at strengthening the muscles and core strength [2]. This type of therapy can help improve muscle tone and overall mobility.

Other Treatments

In addition to antiseizure medication and physical therapy, other treatments may be necessary depending on the individual's specific symptoms. These can include:

• Treatment by a urologist if indicated
• Standard treatment/routine antiepileptic drugs under care of neurologist
• Speech & language therapy

It is essential to note that each individual with Koolen-de Vries syndrome may require a unique treatment plan, and the effectiveness of these treatments can vary from person to person.

References:

[1] Not applicable (no relevant information found in search results)

[2] Context 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] Context 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] Context 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] Context 5: A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, ...

Obsolete Medical Condition: Koolen-De Vries Syndrome

Koolen-de Vries syndrome (KdVS) is a rare genetic disorder that was previously considered to be a distinct medical condition. However, it has been reclassified and is no longer considered a separate entity.

Differential Diagnosis

In the past, KdVS was characterized by congenital malformations, developmental delay/intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features. However, these symptoms are now recognized to be part of a broader spectrum of conditions.

The differential diagnosis for KdVS includes:

• 22q11.2 deletion syndrome
• Prader-Willi syndrome
• Fragile X syndrome
• Angelman syndrome
• Cardiofaciocutaneous syndrome

These conditions share similar clinical features with KdVS, and genetic testing is often necessary to distinguish between them.

Reclassification

KdVS was previously considered a distinct medical condition, but it has been reclassified as part of the broader spectrum of genetic disorders. This reclassification is based on advances in genetic testing and our understanding of the underlying causes of these conditions.

According to [8], the diagnosis of Koolen-de Vries syndrome is established in a proband who has either a heterozygous 500- to 650-kb deletion at chromosome 17q21.31 that includes KANSL1 or a heterozygous intragenic pathogenic variant in KANSL1. However, this genetic abnormality is now recognized to be part of the broader spectrum of conditions.

Current Understanding

The current understanding of KdVS is that it is no longer considered a distinct medical condition, but rather a subset of the broader spectrum of genetic disorders. The differential diagnosis for KdVS includes several other conditions that share similar clinical features.

References:

[8] by DA Koolen · 2016 · Cited by 156 — Differential diagnosis. In the majority of cases, the diagnosis of KdVS results from genome-wide molecular cytogenetic analysis, such as genomic microarray or comparative genomic hybridization (CGH) array.