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 Snijders Blok and Campeau in 2018. The syndrome is caused by mutations in the CHD3 gene, which is involved in chromatin remodeling.
Symptoms and Signs[edit | edit source]
The symptoms of Snijders Blok-Campeau syndrome can vary widely between individuals. Common features include intellectual disability, speech delay, autism spectrum disorder, and distinctive facial features such as a broad forehead, deep-set eyes, and a thin upper lip. Some individuals may also have seizures, hearing loss, and abnormalities of the hands and feet.
Genetics[edit | edit source]
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 Snijders Blok-Campeau syndrome.
Diagnosis[edit | edit source]
The diagnosis of Snijders Blok-Campeau syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing. Genetic testing can identify mutations in the CHD3 gene.
Treatment[edit | edit source]
There is currently no cure for Snijders Blok-Campeau syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Medications may be used to manage seizures.
Prognosis[edit | edit source]
The prognosis for individuals with Snijders Blok-Campeau syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with this syndrome can lead fulfilling lives.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Snijders Blok-Campeau syndrome is a rare disease.
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