Cohen syndrome

A rare genetic disorder

Cohen syndrome is a rare genetic disorder characterized by a combination of features including developmental delay, intellectual disability, small head size (microcephaly), and distinctive facial features. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Signs and symptoms

Individuals with Cohen syndrome often present with a variety of clinical features. These may include:

• Developmental delay and intellectual disability
• Microcephaly
• Distinctive facial features such as a prominent nasal bridge, thick hair, and a high-arched palate
• Retinal dystrophy, which can lead to vision problems
• Neutropenia, a condition characterized by low levels of neutrophils, a type of white blood cell
• Joint hypermobility and scoliosis
• Obesity in childhood
• Hypotonia, or decreased muscle tone

Genetics

Cohen syndrome is caused by mutations in the VPS13B gene, also known as the COH1 gene, located on chromosome 8. This gene is responsible for producing a protein that is involved in the normal functioning of the Golgi apparatus, a structure within cells that helps process and package proteins and lipids. Mutations in the VPS13B gene disrupt this process, leading to the symptoms associated with Cohen syndrome.

Diagnosis

Diagnosis of Cohen syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the VPS13B gene. Early diagnosis is important for managing the symptoms and providing appropriate support and interventions.

Management

There is no cure for Cohen syndrome, and treatment is focused on managing the symptoms and improving quality of life. This may include:

• Regular monitoring and management of vision problems
• Supportive therapies such as physical therapy, occupational therapy, and speech therapy
• Monitoring and treatment of neutropenia to prevent infections
• Educational support and interventions for developmental delays and intellectual disability

Prognosis

The prognosis for individuals with Cohen syndrome varies depending on the severity of symptoms and the presence of complications. With appropriate management and support, many individuals can lead fulfilling lives.

Related pages

• Genetic disorder
• Intellectual disability
• Microcephaly
• Retinal dystrophy