Snijders Blok–Campeau syndrome

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

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

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 of Snijders Blok–Campeau syndrome is based on clinical features and confirmed by genetic testing to identify a mutation in the CHD3 gene.

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.

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.

See Also

• Genetic disorder
• CHD3
• Chromatin remodeling
• Genetic testing

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
• 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

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