Cushing's symphalangism

Cushing's Symphalangism is a rare genetic disorder characterized by the fusion of the joints (symphalangism) in the fingers and toes, leading to limited mobility and flexibility in the affected digits. This condition is part of a group of disorders known as symphalangism spectrum disorders, which affect the development of the joints in the hands and feet. Cushing's Symphalangism is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is necessary for the manifestation of the disorder.

Symptoms and Diagnosis

The primary symptom of Cushing's Symphalangism is the fusion of the joints in the fingers and toes, which can be observed through physical examination. This fusion leads to a characteristic stiffness and inability to fully bend or extend the affected digits. In some cases, the condition may also affect the development of the bones in the hands and feet, leading to further functional impairments.

Diagnosis of Cushing's Symphalangism typically involves a combination of physical examination and family history. Imaging tests, such as X-rays, can be used to confirm the presence of joint fusion and assess the extent of bone involvement.

Genetics

Cushing's Symphalangism is caused by mutations in a specific gene, although the exact gene responsible has not been conclusively identified. The condition is inherited in an autosomal dominant pattern, which means that an individual only needs to inherit one copy of the mutated gene from one parent to be affected.

Treatment

There is no cure for Cushing's Symphalangism, and treatment focuses on managing symptoms and improving the quality of life for affected individuals. Physical therapy and occupational therapy may be recommended to maintain as much mobility and function in the affected digits as possible. In some cases, surgical intervention may be considered to separate fused joints, although this is dependent on the individual case and the extent of fusion.

Prognosis

The prognosis for individuals with Cushing's Symphalangism varies depending on the severity of the joint fusion and the presence of any associated skeletal abnormalities. With appropriate management, most individuals are able to lead active lives, although they may experience limitations in certain activities that require fine motor skills.