Cohen–Gibson syndrome

A rare genetic disorder

Cohen–Gibson syndrome is a rare genetic disorder characterized by distinctive facial features, developmental delay, and skeletal abnormalities. It is caused by mutations in the EED gene, which plays a crucial role in the regulation of gene expression.

Genetics

Cohen–Gibson syndrome is inherited in an autosomal dominant manner. This means that a single copy of the altered gene in each cell is sufficient to cause the disorder. The EED gene is part of the Polycomb repressive complex 2 (PRC2), which is involved in the modification of chromatin and regulation of gene expression.

Autosomal dominant inheritance pattern

Clinical Features

Individuals with Cohen–Gibson syndrome typically present with a range of clinical features, including:

• Distinctive facial features: These may include a broad forehead, wide-set eyes, and a small chin.
• Developmental delay: Affected individuals often experience delays in reaching developmental milestones such as sitting, walking, and talking.
• Skeletal abnormalities: These can include short stature, joint hypermobility, and other bone-related issues.
• Other features: Some individuals may have congenital heart defects, hearing loss, or vision problems.

Diagnosis

The diagnosis of Cohen–Gibson syndrome is based on clinical evaluation and genetic testing. Genetic testing can confirm the presence of mutations in the EED gene.

Management

Management of Cohen–Gibson syndrome is symptomatic and supportive. It may involve a multidisciplinary team of specialists, including pediatricians, geneticists, orthopedists, and speech therapists. Early intervention programs can help address developmental delays.

Prognosis

The prognosis for individuals with Cohen–Gibson syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate management, many individuals can lead fulfilling lives.

Related pages

• Genetic disorder
• Developmental delay
• Skeletal dysplasia
• Autosomal dominant