Cohen Syndrome
Description
Cohen syndrome is a rare genetic disorder that affects multiple parts of the body. It is characterized by intellectual disability, distinctive facial features, and other health concerns. This comprehensive guide will delve into the causes, diagnosis, management, and ways individuals with Cohen syndrome can thrive.
Genes Involved
Cohen syndrome is caused by mutations in the VPS13B gene. This gene provides instructions for making a protein that is involved in the transport of materials within cells. Mutations in the VPS13B gene disrupt this process, leading to the characteristic features of Cohen syndrome.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Cohen syndrome can be crucial for early diagnosis and intervention. Some common features include:
- Intellectual disability: Varying degrees of intellectual disability are a hallmark of Cohen syndrome.
- Distinctive facial features: Individuals with Cohen syndrome often have a characteristic facial appearance, including a prominent forehead, a small jaw, widely spaced eyes, and a flattened nasal bridge.
- Growth delays: Children with Cohen syndrome may experience delays in growth, both in height and weight.
- Heart defects: Congenital heart defects, such as ventricular septal defects (VSD) and patent ductus arteriosus (PDA), are relatively common.
- Skeletal abnormalities: Joint contractures, scoliosis, and other skeletal abnormalities may occur.
- Other health concerns: Additional health issues can include hypotonia (low muscle tone), vision problems, hearing loss, and seizures.
Causes
Cohen syndrome is caused by mutations in the VPS13B gene. This gene provides instructions for making a protein that is involved in the transport of materials within cells. Mutations in the VPS13B gene disrupt this process, leading to the characteristic features of Cohen syndrome.
Inheritance/recurrence risk
Cohen syndrome is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to have the condition. If both parents are carriers, there is a 25% chance that each child will inherit the condition.
