Craniosynostosis with anomalies of the cranial base and digits

Craniosynostosis with anomalies of the cranial base and digits is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities in the base of the skull (cranial base anomalies), and malformations of the fingers and toes (digit anomalies).

Overview

Craniosynostosis is a condition in which one or more of the fibrous joints between the bones of a baby's skull (cranial sutures) close prematurely, before the baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance. Craniosynostosis usually involves fusion of a single cranial suture, but can involve more than one of the sutures in a baby's skull (complex craniosynostosis).

Symptoms

The most common symptom of craniosynostosis is an abnormally shaped head, which is often noticed at birth. Other symptoms can include a slow or stopped growth of the baby's head, a hard ridge along the affected sutures, and an increased pressure within the skull (intracranial pressure).

In addition to craniosynostosis, individuals with this disorder may also have anomalies of the cranial base. These can include abnormalities in the bones that form the base of the skull, such as the occipital bone, sphenoid bone, and ethmoid bone.

Digit anomalies in this disorder can range from minor changes in the shape or number of fingers or toes, to more severe malformations such as syndactyly (fusion of digits), polydactyly (extra digits), or brachydactyly (shortened digits).

Causes

The exact cause of craniosynostosis with anomalies of the cranial base and digits is not known. However, it is believed to be a genetic disorder, which means it is caused by abnormalities in the individual's genes. It is not known which specific genes are involved.

Treatment

Treatment for craniosynostosis with anomalies of the cranial base and digits typically involves surgery to correct the shape of the head and relieve pressure on the brain. Other treatments may include physical therapy to help with movement problems caused by digit anomalies, and speech therapy to help with speech problems caused by cranial base anomalies.

See also

• Craniosynostosis
• Genetic disorder
• Syndactyly
• Polydactyly
• Brachydactyly

Craniosynostosis with anomalies of the cranial base and digits Resources
Latest articles Most recent articles Ongoing trials	Wikipedia