Hajdu-Cheney syndrome

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Hajdu-Cheney Syndrome

Hajdu-Cheney Syndrome (pronounced HAH-joo CHAY-nee sin-drome), also known as serpentine fibula polycystic kidney syndrome, is a rare genetic disorder characterized by various skeletal abnormalities, including craniofacial dysmorphism, acro-osteolysis of the distal phalanges, and generalized osteoporosis. The etymology of the term comes from the names of the two doctors, N. Hajdu and S. Cheney, who first described the condition in 1948.

Symptoms and Signs

The symptoms of Hajdu-Cheney Syndrome can vary greatly among affected individuals. Common signs include short stature, distinctive facial features, dental abnormalities, hearing loss, and severe bone demineralization leading to frequent fractures. Some individuals may also have heart defects, kidney abnormalities, and/or neurological problems.

Causes

Hajdu-Cheney Syndrome is caused by mutations in the NOTCH2 gene. This gene provides instructions for making a protein that helps control the development and maintenance of many types of cells and tissues. The NOTCH2 mutations that cause Hajdu-Cheney Syndrome result in an abnormally short NOTCH2 protein that cannot function properly, leading to the signs and symptoms of the disorder.

Diagnosis

Diagnosis of Hajdu-Cheney Syndrome is based on clinical examination and confirmed by genetic testing for mutations in the NOTCH2 gene. Other diagnostic tests may include X-rays, bone density tests, and kidney function tests.

Treatment

There is currently no cure for Hajdu-Cheney Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and surgical intervention for severe bone deformities. Regular monitoring of heart and kidney function is also recommended.

See Also

External links

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