Oxycephaly

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Oxycephaly is a severe form of craniosynostosis that is characterized by a conical, pointed skull with a high, full forehead. This condition is the most severe form of craniosynostosis and is often associated with syndromic craniosynostosis.

Causes[edit | edit source]

Oxycephaly is usually caused by the premature closure of the coronal suture and sometimes the sagittal suture. This prevents the skull from growing normally and affects the shape of the head and face. The condition is often associated with genetic disorders, such as Crouzon syndrome and Apert syndrome.

Symptoms[edit | edit source]

The symptoms of oxycephaly can vary greatly depending on the severity of the condition. Common symptoms include a pointed head, high forehead, and abnormal facial features. Other symptoms may include hydrocephalus, seizures, intellectual disability, and vision problems.

Diagnosis[edit | edit source]

Oxycephaly is usually diagnosed at birth or shortly thereafter. The diagnosis is based on a physical examination and imaging tests, such as X-rays, computed tomography (CT) scan, or magnetic resonance imaging (MRI).

Treatment[edit | edit source]

The treatment for oxycephaly usually involves surgery to correct the shape of the skull and relieve pressure on the brain. This is often done in the first year of life. Other treatments may include physical therapy, speech therapy, and occupational therapy to help with developmental issues.

Prognosis[edit | edit source]

The prognosis for individuals with oxycephaly varies. Some individuals may have normal intelligence and a normal lifespan, while others may have intellectual disability and other health problems. Early diagnosis and treatment can improve the prognosis.

See also[edit | edit source]

Oxycephaly Resources
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Contributors: Prab R. Tumpati, MD