General Information About Crouzon Syndrome
Disease Details and Frequently Asked Questions
It is a genetic mutation where the joints (sutures) between the bones of the skull fuse prematurely while the baby is still in the womb, leading to abnormal growth in the shape of the head and face.
An abnormal skull shape, bulging eyes (exophthalmos) due to shallow eye sockets, a flattened or beaked nose, and a protruding lower jaw.
Intellectual development is generally normal. However, if the growing brain is compressed because the skull fused early (increased intracranial pressure), it can lead to intellectual issues or vision loss.
Both involve the premature fusion of skull bones, but Apert syndrome additionally presents with fused fingers and toes (syndactyly), whereas in Crouzon syndrome, the digits are normal.
A strong suspicion arises at birth due to the baby's physical appearance. Premature fusion of the skull bones is identified with a Computed Tomography (CT) scan, and the diagnosis is confirmed by genetic testing targeting the FGFR2 gene.
The treatment is strictly surgical. In the early months, the skull bones are surgically remodeled to create space for the brain to grow. In later years, orthodontic treatments and aesthetic jaw surgeries to pull the facial bones forward are performed.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
