Snijders Blok–Campeau syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Snijders Blok–Campeau syndrome | |||
| image = [[File:Individuals_who_have_Snijders_Blok-Campeau_syndrome.jpg|250px]] | |||
| caption = Individuals who have Snijders Blok–Campeau syndrome | |||
| synonyms = [[CHD3-related neurodevelopmental disorder]] | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[speech delay]], [[hypotonia]], [[autism spectrum disorder]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[CHD3]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]] | |||
| differential = [[Other neurodevelopmental disorders]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[speech therapy]], [[occupational therapy]] | |||
| medication = | |||
| prognosis = Varies | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Snijders Blok–Campeau syndrome''' is a rare [[genetic disorder]] characterized by a range of physical and developmental abnormalities. It was first described by the Dutch geneticist Lisenka E. L. Snijders Blok and the Canadian geneticist Philippe M. Campeau in 2018. | '''Snijders Blok–Campeau syndrome''' is a rare [[genetic disorder]] characterized by a range of physical and developmental abnormalities. It was first described by the Dutch geneticist Lisenka E. L. Snijders Blok and the Canadian geneticist Philippe M. Campeau in 2018. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The syndrome is characterized by a variety of symptoms, including [[intellectual disability]], [[speech delay]], [[motor delay]], and distinctive facial features. Other symptoms may include [[hypotonia]] (low muscle tone), [[microcephaly]] (small head size), and [[epilepsy]]. The severity and combination of symptoms can vary greatly among individuals with the syndrome. | The syndrome is characterized by a variety of symptoms, including [[intellectual disability]], [[speech delay]], [[motor delay]], and distinctive facial features. Other symptoms may include [[hypotonia]] (low muscle tone), [[microcephaly]] (small head size), and [[epilepsy]]. The severity and combination of symptoms can vary greatly among individuals with the syndrome. | ||
== Genetics == | == Genetics == | ||
Snijders Blok–Campeau syndrome is caused by mutations in the [[CHD3]] gene. This gene provides instructions for making a protein that is involved in [[chromatin remodeling]], a process that helps control the activity of genes. Mutations in the CHD3 gene disrupt this process, leading to the symptoms of the syndrome. | Snijders Blok–Campeau syndrome is caused by mutations in the [[CHD3]] gene. This gene provides instructions for making a protein that is involved in [[chromatin remodeling]], a process that helps control the activity of genes. Mutations in the CHD3 gene disrupt this process, leading to the symptoms of the syndrome. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Snijders Blok–Campeau syndrome is based on clinical features and confirmed by [[genetic testing]] to identify a mutation in the CHD3 gene. | Diagnosis of Snijders Blok–Campeau syndrome is based on clinical features and confirmed by [[genetic testing]] to identify a mutation in the CHD3 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Snijders Blok–Campeau syndrome. Treatment is symptomatic and supportive, and may include [[physical therapy]], [[speech therapy]], and [[occupational therapy]]. Medications may be used to manage symptoms such as epilepsy. | There is currently no cure for Snijders Blok–Campeau syndrome. Treatment is symptomatic and supportive, and may include [[physical therapy]], [[speech therapy]], and [[occupational therapy]]. Medications may be used to manage symptoms such as epilepsy. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Snijders Blok–Campeau syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives. | The prognosis for individuals with Snijders Blok–Campeau syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
| Line 21: | Line 37: | ||
* [[Chromatin remodeling]] | * [[Chromatin remodeling]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
== References == | == References == | ||
* Snijders Blok L, Rousseau J, Twist J, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018;9(1):4619. doi:10.1038/s41467-018-06014-6 | * Snijders Blok L, Rousseau J, Twist J, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018;9(1):4619. doi:10.1038/s41467-018-06014-6 | ||
* Campeau PM, Kasperaviciute D, Lu JT, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014;13(1):44-58. doi:10.1016/S1474-4422(13)70265-5 | * Campeau PM, Kasperaviciute D, Lu JT, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014;13(1):44-58. doi:10.1016/S1474-4422(13)70265-5 | ||
{{stub}} | {{stub}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
| Line 32: | Line 46: | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Syndromes affecting the nervous system]] | [[Category:Syndromes affecting the nervous system]] | ||
Latest revision as of 23:00, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Snijders Blok–Campeau syndrome | |
|---|---|
| |
| Synonyms | CHD3-related neurodevelopmental disorder |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, speech delay, hypotonia, autism spectrum disorder |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the CHD3 gene |
| Risks | |
| Diagnosis | Genetic testing |
| Differential diagnosis | Other neurodevelopmental disorders |
| Prevention | |
| Treatment | Supportive care, speech therapy, occupational therapy |
| Medication | |
| Prognosis | Varies |
| Frequency | Rare |
| Deaths | |
Snijders Blok–Campeau syndrome is a rare genetic disorder characterized by a range of physical and developmental abnormalities. It was first described by the Dutch geneticist Lisenka E. L. Snijders Blok and the Canadian geneticist Philippe M. Campeau in 2018.
Symptoms and Signs[edit]
The syndrome is characterized by a variety of symptoms, including intellectual disability, speech delay, motor delay, and distinctive facial features. Other symptoms may include hypotonia (low muscle tone), microcephaly (small head size), and epilepsy. The severity and combination of symptoms can vary greatly among individuals with the syndrome.
Genetics[edit]
Snijders Blok–Campeau syndrome is caused by mutations in the CHD3 gene. This gene provides instructions for making a protein that is involved in chromatin remodeling, a process that helps control the activity of genes. Mutations in the CHD3 gene disrupt this process, leading to the symptoms of the syndrome.
Diagnosis[edit]
Diagnosis of Snijders Blok–Campeau syndrome is based on clinical features and confirmed by genetic testing to identify a mutation in the CHD3 gene.
Treatment[edit]
There is currently no cure for Snijders Blok–Campeau syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy. Medications may be used to manage symptoms such as epilepsy.
Prognosis[edit]
The prognosis for individuals with Snijders Blok–Campeau syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.
See Also[edit]
References[edit]
- Snijders Blok L, Rousseau J, Twist J, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018;9(1):4619. doi:10.1038/s41467-018-06014-6
- Campeau PM, Kasperaviciute D, Lu JT, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014;13(1):44-58. doi:10.1016/S1474-4422(13)70265-5
