Crouzon Syndrome
Description
Crouzon Syndrome is a rare genetic disorder that affects the development of the skull and facial bones. This condition is present at birth and can cause a variety of symptoms, including a distinctive facial appearance, vision problems, and hearing loss. Learn about Crouzon Syndrome, its causes, diagnosis, and how to manage it effectively.
Genes Involved
Crouzon Syndrome is caused by mutations in the FGFR2 gene, which plays a vital role in bone growth and development. This gene mutation disrupts the normal growth process of the skull bones, leading to the characteristic features of Crouzon Syndrome.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Crouzon Syndrome can be crucial for early diagnosis and management. Common features include a prominent forehead, bulging eyes, a small upper jaw, a narrow face, and a beak-like nose. Some individuals may also experience vision problems, hearing loss, and dental issues due to the restricted growth of the skull.
Causes
Crouzon Syndrome is a genetic disorder that arises from a mutation in the FGFR2 gene. This gene mutation is usually inherited from a parent, but it can also occur spontaneously in some cases. The mutation disrupts the proper development of the skull and facial bones, leading to the symptoms of Crouzon Syndrome.
Inheritance/recurrence risk
Crouzon Syndrome is typically inherited in an autosomal dominant pattern. This means that if one parent carries the mutated gene, there is a 50% chance of passing it on to each child. In some cases, the mutation can occur spontaneously without a family history of the disorder.
