Hajdu-Cheney Syndrome is a rare genetic disorder that affects various parts of the body. It is characterized by distinctive facial features, including a prominent forehead, widely spaced eyes, a small chin, and a beaked nose. Individuals with this syndrome may also have dental abnormalities, such as missing or misshapen teeth.
One of the key features of Hajdu-Cheney Syndrome is bone loss and skeletal abnormalities. This can lead to a range of issues, including short stature, joint problems, and an increased risk of fractures. The bones in the skull may be thin and porous, which can cause headaches and hearing loss.
Other symptoms of Hajdu-Cheney Syndrome may include hypermobility of joints, scoliosis, heart defects, and respiratory problems. Additionally, affected individuals may experience developmental delays and intellectual disabilities.
Due to its rarity, there is currently no cure for Hajdu-Cheney Syndrome. Treatment focuses on managing the symptoms and providing support to individuals and their families. This may involve a multidisciplinary approach, including orthopedic care, dental interventions, and developmental support.