Cortical hyperostosis syndactyly

Cortical Hyperostosis with Syndactyly is a rare genetic disorder characterized by the abnormal thickening of the cortex of the bones (cortical hyperostosis) and the fusion of two or more fingers or toes (syndactyly). This condition falls under the broader category of skeletal dysplasia, which encompasses a range of disorders affecting bone and cartilage growth and development.

Symptoms and Diagnosis

The primary symptoms of Cortical Hyperostosis with Syndactyly include abnormal bone growth leading to pain, swelling, and potential deformity. The syndactyly aspect refers to the webbing or joining of fingers or toes, which can vary in severity from complete fusion to a simple webbing of skin. Diagnosis is typically made through a combination of physical examination, family history, and imaging tests such as X-rays, which can reveal the characteristic thickening of the bone cortex and the extent of syndactyly.

Causes

The exact cause of Cortical Hyperostosis with Syndactyly is not fully understood, but it is believed to be genetic in nature. It may be inherited in an autosomal dominant manner, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. However, cases have been reported where there is no known family history, suggesting the possibility of new mutations.

Treatment

Treatment for Cortical Hyperostosis with Syndactyly focuses on managing symptoms and improving the quality of life for affected individuals. Surgical intervention may be necessary to separate fused digits and correct bone deformities. Pain management, physical therapy, and in some cases, orthopedic devices may be recommended to support mobility and function.

Prognosis

The prognosis for individuals with Cortical Hyperostosis with Syndactyly varies depending on the severity of the symptoms and the success of treatment interventions. With appropriate management, many individuals can lead active, healthy lives.

See Also

• Skeletal dysplasia
• Syndactyly
• Bone dysplasia