Craniosynostosis, Adelaide type

Craniosynostosis, Adelaide type is a rare genetic disorder characterized by the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Causes

Craniosynostosis, Adelaide type is caused by mutations in the FGFR2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in the FGFR2 gene alter the protein, which disrupts the normal development of these tissues and leads to the premature fusion of the skull bones.

Symptoms

The symptoms of Craniosynostosis, Adelaide type can vary greatly among individuals. Common symptoms include a misshapen head, a prominent forehead, wide-set eyes, a beaked nose, and an underdeveloped upper jaw. Some individuals may also have hearing loss, vision problems, and developmental delay.

Diagnosis

Diagnosis of Craniosynostosis, Adelaide type is based on a clinical examination and confirmed by genetic testing. Imaging tests such as X-rays or CT scans may also be used to assess the severity of the skull abnormalities.

Treatment

Treatment for Craniosynostosis, Adelaide type typically involves surgery to correct the shape of the skull and relieve pressure on the brain. Other treatments may be needed to address additional symptoms, such as hearing aids for hearing loss or special education services for developmental delay.

Prognosis

The prognosis for individuals with Craniosynostosis, Adelaide type depends on the severity of the symptoms and the individual's response to treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead normal lives.

See also

• Craniosynostosis
• Genetic disorder
• FGFR2

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